Terminology Server Log

1

Request: 

GET http://tx.fhir.org/r4/metadata?_summary=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:1519
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:23:09 GMT
pragma:no-cache
server:nginx
x-request-id:18-360440

{"resourceType" : "CapabilityStatement","id" : "FhirServer","meta" : {"tag" : [{"system" : "http://hl7.org/fhir/v3/ObservationValue","code" : "SUBSETTED","display" : "Subsetted"}]},"url" : "http://tx.fhir.org/r4/metadata","version" : "4.0.1-3.0.0","name" : "FHIR Reference Server Conformance Statement","status" : "active","date" : "2023-08-08T19:23:09.688Z","contact" : [{"telecom" : [{"system" : "other","value" : "http://healthintersections.com.au/"}]}],"kind" : "instance","instantiates" : ["http://hl7.org/fhir/CapabilityStatement/terminology-server"],"software" : {"name" : "Reference Server","version" : "3.0.0","releaseDate" : "2023-06-19T19:50:55.040Z"},"implementation" : {"description" : "FHIR Server running at http://tx.fhir.org/r4","url" : "http://tx.fhir.org/r4"},"fhirVersion" : "4.0.1","format" : ["application/fhir+xml","application/fhir+json"],"rest" : [{"mode" : "server","security" : {"cors" : true},"operation" : [{"name" : "expand","definition" : "http://hl7.org/fhir/OperationDefinition/ValueSet-expand"},{"name" : "lookup","definition" : "http://hl7.org/fhir/OperationDefinition/ValueSet-lookup"},{"name" : "validate-code","definition" : "http://hl7.org/fhir/OperationDefinition/Resource-validate"},{"name" : "translate","definition" : "http://hl7.org/fhir/OperationDefinition/ConceptMap-translate"},{"name" : "closure","definition" : "http://hl7.org/fhir/OperationDefinition/ConceptMap-closure"},{"name" : "versions","definition" : "http://tx.fhir.org/r4/OperationDefinition/fso-versions"}]}]}

2

Request: 

GET http://tx.fhir.org/r4/metadata?mode=terminology HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:74076
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:23:09 GMT
server:nginx
x-request-id:18-360442

{"resourceType" : "TerminologyCapabilities","id" : "FhirServer","url" : "http://tx.fhir.org/r4/metadata","version" : "2.0.0","name" : "FHIR Reference Server Teminology Capability Statement","status" : "active","date" : "2023-08-08T13:12:45.790Z","contact" : [{"telecom" : [{"system" : "other","value" : "http://healthintersections.com.au/"}]}],"description" : "Standard Teminology Capability Statement for the open source Reference FHIR Server provided by Health Intersections","codeSystem" : [{"uri" : "http://cds-hooks.hl7.org/CodeSystem/indicator"},{"uri" : "http://devices.fhir.org/CodeSystem/MDC-concept-status"},{"uri" : "http://devices.fhir.org/CodeSystem/MDC-designation-use"},{"uri" : "http://dicom.nema.org/resources/ontology/DCM"},{"uri" : "http://fdasis.nlm.nih.gov"},{"uri" : "http://healthit.gov/nhin/purposeofuse"},{"uri" : "http://hl7.org/fhir/abstract-types"},{"uri" : "http://hl7.org/fhir/account-status"},{"uri" : "http://hl7.org/fhir/action-cardinality-behavior"},{"uri" : "http://hl7.org/fhir/action-condition-kind"},{"uri" : "http://hl7.org/fhir/action-grouping-behavior"},{"uri" : "http://hl7.org/fhir/action-participant-type"},{"uri" : "http://hl7.org/fhir/action-precheck-behavior"},{"uri" : "http://hl7.org/fhir/action-relationship-type"},{"uri" : "http://hl7.org/fhir/action-required-behavior"},{"uri" : "http://hl7.org/fhir/action-selection-behavior"},{"uri" : "http://hl7.org/fhir/additionalmaterials"},{"uri" : "http://hl7.org/fhir/address-type"},{"uri" : "http://hl7.org/fhir/address-use"},{"uri" : "http://hl7.org/fhir/administrative-gender"},{"uri" : "http://hl7.org/fhir/adverse-event-actuality"},{"uri" : "http://hl7.org/fhir/allergy-intolerance-category"},{"uri" : "http://hl7.org/fhir/allergy-intolerance-criticality"},{"uri" : "http://hl7.org/fhir/allergy-intolerance-type"},{"uri" : "http://hl7.org/fhir/animal-genderstatus"},{"uri" : "http://hl7.org/fhir/animal-species"},{"uri" : "http://hl7.org/fhir/appointmentstatus"},{"uri" : "http://hl7.org/fhir/assert-direction-codes"},{"uri" : "http://hl7.org/fhir/assert-operator-codes"},{"uri" : "http://hl7.org/fhir/assert-response-code-types"},{"uri" : "http://hl7.org/fhir/asset-availability"},{"uri" : "http://hl7.org/fhir/audit-event-action"},{"uri" : "http://hl7.org/fhir/binding-strength"},{"uri" : "http://hl7.org/fhir/bundle-type"},{"uri" : "http://hl7.org/fhir/capability-statement-kind"},{"uri" : "http://hl7.org/fhir/care-plan-activity-status"},{"uri" : "http://hl7.org/fhir/care-team-status"},{"uri" : "http://hl7.org/fhir/chargeitem-status"},{"uri" : "http://hl7.org/fhir/claim-use"},{"uri" : "http://hl7.org/fhir/code-search-support"},{"uri" : "http://hl7.org/fhir/CodeSystem/example"},{"uri" : "http://hl7.org/fhir/CodeSystem/medicationrequest-intent"},{"uri" : "http://hl7.org/fhir/CodeSystem/medicationrequest-status"},{"uri" : "http://hl7.org/fhir/CodeSystem/medication-statement-status"},{"uri" : "http://hl7.org/fhir/CodeSystem/medication-status"},{"uri" : "http://hl7.org/fhir/CodeSystem/status"},{"uri" : "http://hl7.org/fhir/CodeSystem/summary"},{"uri" : "http://hl7.org/fhir/CodeSystem/task-code"},{"uri" : "http://hl7.org/fhir/codesystem-content-mode"},{"uri" : "http://hl7.org/fhir/codesystem-hierarchy-meaning"},{"uri" : "http://hl7.org/fhir/compartment-type"},{"uri" : "http://hl7.org/fhir/composition-attestation-mode"},{"uri" : "http://hl7.org/fhir/composition-status"},{"uri" : "http://hl7.org/fhir/concept-map-equivalence"},{"uri" : "http://hl7.org/fhir/conceptmap-unmapped-mode"},{"uri" : "http://hl7.org/fhir/concept-properties"},{"uri" : "http://hl7.org/fhir/concept-property-type"},{"uri" : "http://hl7.org/fhir/concept-subsumption-outcome"},{"uri" : "http://hl7.org/fhir/conditional-delete-status"},{"uri" : "http://hl7.org/fhir/conditional-read-status"},{"uri" : "http://hl7.org/fhir/consent-data-meaning"},{"uri" : "http://hl7.org/fhir/consentperformer"},{"uri" : "http://hl7.org/fhir/consent-provision-type"},{"uri" : "http://hl7.org/fhir/consent-state-codes"},{"uri" : "http://hl7.org/fhir/constraint-severity"},{"uri" : "http://hl7.org/fhir/contact-point-system"},{"uri" : "http://hl7.org/fhir/contact-point-use"},{"uri" : "http://hl7.org/fhir/contract-action-status"},{"uri" : "http://hl7.org/fhir/contract-asset-context"},{"uri" : "http://hl7.org/fhir/contract-asset-scope"},{"uri" : "http://hl7.org/fhir/contract-asset-subtype"},{"uri" : "http://hl7.org/fhir/contract-asset-type"},{"uri" : "http://hl7.org/fhir/contract-decision-mode"},{"uri" : "http://hl7.org/fhir/contract-definition-subtype"},{"uri" : "http://hl7.org/fhir/contract-definition-type"},{"uri" : "http://hl7.org/fhir/contract-expiration-type"},{"uri" : "http://hl7.org/fhir/contract-legalstate"},{"uri" : "http://hl7.org/fhir/contract-party-role"},{"uri" : "http://hl7.org/fhir/contract-publicationstatus"},{"uri" : "http://hl7.org/fhir/contract-scope"},{"uri" : "http://hl7.org/fhir/contract-security-category"},{"uri" : "http://hl7.org/fhir/contract-security-classification"},{"uri" : "http://hl7.org/fhir/contract-security-control"},{"uri" : "http://hl7.org/fhir/contract-status"},{"uri" : "http://hl7.org/fhir/contributor-type"},{"uri" : "http://hl7.org/fhir/data-types"},{"uri" : "http://hl7.org/fhir/days-of-week"},{"uri" : "http://hl7.org/fhir/definition-resource-types"},{"uri" : "http://hl7.org/fhir/detectedissue-severity"},{"uri" : "http://hl7.org/fhir/device-action"},{"uri" : "http://hl7.org/fhir/device-definition-status"},{"uri" : "http://hl7.org/fhir/device-nametype"},{"uri" : "http://hl7.org/fhir/device-statement-status"},{"uri" : "http://hl7.org/fhir/device-status"},{"uri" : "http://hl7.org/fhir/diagnostic-report-status"},{"uri" : "http://hl7.org/fhir/discriminator-type"},{"uri" : "http://hl7.org/fhir/document-mode"},{"uri" : "http://hl7.org/fhir/document-reference-status"},{"uri" : "http://hl7.org/fhir/document-relationship-type"},{"uri" : "http://hl7.org/fhir/eligibilityrequest-purpose"},{"uri" : "http://hl7.org/fhir/eligibilityresponse-purpose"},{"uri" : "http://hl7.org/fhir/encounter-location-status"},{"uri" : "http://hl7.org/fhir/encounter-status"},{"uri" : "http://hl7.org/fhir/endpoint-status"},{"uri" : "http://hl7.org/fhir/episode-of-care-status"},{"uri" : "http://hl7.org/fhir/event-capability-mode"},{"uri" : "http://hl7.org/fhir/event-resource-types"},{"uri" : "http://hl7.org/fhir/event-status"},{"uri" : "http://hl7.org/fhir/event-timing"},{"uri" : "http://hl7.org/fhir/examplescenario-actor-type"},{"uri" : "http://hl7.org/fhir/ex-claimitemtype"},{"uri" : "http://hl7.org/fhir/ex-fdi"},{"uri" : "http://hl7.org/fhir/ex-onsettype"},{"uri" : "http://hl7.org/fhir/ex-oralprostho"},{"uri" : "http://hl7.org/fhir/ex-pharmaservice"},{"uri" : "http://hl7.org/fhir/explanationofbenefit-status"},{"uri" : "http://hl7.org/fhir/exposure-state"},{"uri" : "http://hl7.org/fhir/expression-language"},{"uri" : "http://hl7.org/fhir/ex-servicemodifier"},{"uri" : "http://hl7.org/fhir/ex-serviceproduct"},{"uri" : "http://hl7.org/fhir/extension-context-type"},{"uri" : "http://hl7.org/fhir/extra-activity-type"},{"uri" : "http://hl7.org/fhir/ex-udi"},{"uri" : "http://hl7.org/fhir/feeding-device"},{"uri" : "http://hl7.org/fhir/FHIR-version"},{"uri" : "http://hl7.org/fhir/filter-operator"},{"uri" : "http://hl7.org/fhir/flag-priority-code"},{"uri" : "http://hl7.org/fhir/flag-status"},{"uri" : "http://hl7.org/fhir/fm-conditions"},{"uri" : "http://hl7.org/fhir/fm-status"},{"uri" : "http://hl7.org/fhir/gender-identity"},{"uri" : "http://hl7.org/fhir/goal-status"},{"uri" : "http://hl7.org/fhir/goal-status-reason"},{"uri" : "http://hl7.org/fhir/graph-compartment-rule"},{"uri" : "http://hl7.org/fhir/graph-compartment-use"},{"uri" : "http://hl7.org/fhir/group-measure"},{"uri" : "http://hl7.org/fhir/group-type"},{"uri" : "http://hl7.org/fhir/guidance-response-status"},{"uri" : "http://hl7.org/fhir/guide-page-generation"},{"uri" : "http://hl7.org/fhir/history-status"},{"uri" : "http://hl7.org/fhir/http-operations"},{"uri" : "http://hl7.org/fhir/http-verb"},{"uri" : "http://hl7.org/fhir/identifier-use"},{"uri" : "http://hl7.org/fhir/identity-assuranceLevel"},{"uri" : "http://hl7.org/fhir/imagingstudy-status"},{"uri" : "http://hl7.org/fhir/intervention"},{"uri" : "http://hl7.org/fhir/invoice-priceComponentType"},{"uri" : "http://hl7.org/fhir/invoice-status"},{"uri" : "http://hl7.org/fhir/issue-severity"},{"uri" : "http://hl7.org/fhir/issue-type"},{"uri" : "http://hl7.org/fhir/item-type"},{"uri" : "http://hl7.org/fhir/knowledge-resource-types"},{"uri" : "http://hl7.org/fhir/language-preference-type"},{"uri" : "http://hl7.org/fhir/linkage-type"},{"uri" : "http://hl7.org/fhir/link-type"},{"uri" : "http://hl7.org/fhir/list-mode"},{"uri" : "http://hl7.org/fhir/list-status"},{"uri" : "http://hl7.org/fhir/location-mode"},{"uri" : "http://hl7.org/fhir/location-status"},{"uri" : "http://hl7.org/fhir/map-context-type"},{"uri" : "http://hl7.org/fhir/map-group-type-mode"},{"uri" : "http://hl7.org/fhir/map-input-mode"},{"uri" : "http://hl7.org/fhir/map-model-mode"},{"uri" : "http://hl7.org/fhir/map-source-list-mode"},{"uri" : "http://hl7.org/fhir/map-target-list-mode"},{"uri" : "http://hl7.org/fhir/map-transform"},{"uri" : "http://hl7.org/fhir/measure-report-status"},{"uri" : "http://hl7.org/fhir/measure-report-type"},{"uri" : "http://hl7.org/fhir/message-events"},{"uri" : "http://hl7.org/fhir/messageheader-response-request"},{"uri" : "http://hl7.org/fhir/message-significance-category"},{"uri" : "http://hl7.org/fhir/metric-calibration-state"},{"uri" : "http://hl7.org/fhir/metric-calibration-type"},{"uri" : "http://hl7.org/fhir/metric-category"},{"uri" : "http://hl7.org/fhir/metric-color"},{"uri" : "http://hl7.org/fhir/metric-operational-status"},{"uri" : "http://hl7.org/fhir/name-use"},{"uri" : "http://hl7.org/fhir/namingsystem-identifier-type"},{"uri" : "http://hl7.org/fhir/namingsystem-type"},{"uri" : "http://hl7.org/fhir/narrative-status"},{"uri" : "http://hl7.org/fhir/network-type"},{"uri" : "http://hl7.org/fhir/note-type"},{"uri" : "http://hl7.org/fhir/observation-range-category"},{"uri" : "http://hl7.org/fhir/observation-status"},{"uri" : "http://hl7.org/fhir/operation-kind"},{"uri" : "http://hl7.org/fhir/operation-parameter-use"},{"uri" : "http://hl7.org/fhir/organization-role"},{"uri" : "http://hl7.org/fhir/orientation-type"},{"uri" : "http://hl7.org/fhir/participantrequired"},{"uri" : "http://hl7.org/fhir/participationstatus"},{"uri" : "http://hl7.org/fhir/permitted-data-type"},{"uri" : "http://hl7.org/fhir/practitioner-specialty"},{"uri" : "http://hl7.org/fhir/procedure-progress-status-code"},{"uri" : "http://hl7.org/fhir/product-category"},{"uri" : "http://hl7.org/fhir/product-status"},{"uri" : "http://hl7.org/fhir/product-storage-scale"},{"uri" : "http://hl7.org/fhir/property-representation"},{"uri" : "http://hl7.org/fhir/provenance-entity-role"},{"uri" : "http://hl7.org/fhir/provenance-participant-role"},{"uri" : "http://hl7.org/fhir/publication-status"},{"uri" : "http://hl7.org/fhir/quality-type"},{"uri" : "http://hl7.org/fhir/quantity-comparator"},{"uri" : "http://hl7.org/fhir/questionnaire-answers-status"},{"uri" : "http://hl7.org/fhir/questionnaire-display-category"},{"uri" : "http://hl7.org/fhir/questionnaire-enable-behavior"},{"uri" : "http://hl7.org/fhir/questionnaire-enable-operator"},{"uri" : "http://hl7.org/fhir/questionnaire-item-control"},{"uri" : "http://hl7.org/fhir/reaction-event-severity"},{"uri" : "http://hl7.org/fhir/reason-medication-not-given"},{"uri" : "http://hl7.org/fhir/reference-handling-policy"},{"uri" : "http://hl7.org/fhir/reference-version-rules"},{"uri" : "http://hl7.org/fhir/related-artifact-type"},{"uri" : "http://hl7.org/fhir/relationship"},{"uri" : "http://hl7.org/fhir/relation-type"},{"uri" : "http://hl7.org/fhir/remittance-outcome"},{"uri" : "http://hl7.org/fhir/report-action-result-codes"},{"uri" : "http://hl7.org/fhir/report-participant-type"},{"uri" : "http://hl7.org/fhir/report-result-codes"},{"uri" : "http://hl7.org/fhir/report-status-codes"},{"uri" : "http://hl7.org/fhir/repository-type"},{"uri" : "http://hl7.org/fhir/request-intent"},{"uri" : "http://hl7.org/fhir/request-priority"},{"uri" : "http://hl7.org/fhir/request-resource-types"},{"uri" : "http://hl7.org/fhir/request-status"},{"uri" : "http://hl7.org/fhir/research-element-type"},{"uri" : "http://hl7.org/fhir/research-study-status"},{"uri" : "http://hl7.org/fhir/research-subject-status"},{"uri" : "http://hl7.org/fhir/resource-aggregation-mode"},{"uri" : "http://hl7.org/fhir/resource-slicing-rules"},{"uri" : "http://hl7.org/fhir/resource-status"},{"uri" : "http://hl7.org/fhir/resource-types"},{"uri" : "http://hl7.org/fhir/resource-validation-mode"},{"uri" : "http://hl7.org/fhir/response-code"},{"uri" : "http://hl7.org/fhir/restful-capability-mode"},{"uri" : "http://hl7.org/fhir/restful-interaction"},{"uri" : "http://hl7.org/fhir/search-comparator"},{"uri" : "http://hl7.org/fhir/search-entry-mode"},{"uri" : "http://hl7.org/fhir/search-modifier-code"},{"uri" : "http://hl7.org/fhir/search-param-type"},{"uri" : "http://hl7.org/fhir/search-xpath-usage"},{"uri" : "http://hl7.org/fhir/secondary-finding"},{"uri" : "http://hl7.org/fhir/sequence-type"},{"uri" : "http://hl7.org/fhir/sid/cvx"},{"uri" : "http://hl7.org/fhir/sid/ex-icd-10-procedures"},{"uri" : "http://hl7.org/fhir/sid/icd-10"},{"uri" : "http://hl7.org/fhir/sid/icd-10-cm"},{"uri" : "http://hl7.org/fhir/sid/icd-9-cm"},{"uri" : "http://hl7.org/fhir/sid/mvx"},{"uri" : "http://hl7.org/fhir/sid/ndc"},{"uri" : "http://hl7.org/fhir/slotstatus"},{"uri" : "http://hl7.org/fhir/sort-direction"},{"uri" : "http://hl7.org/fhir/spdx-license"},{"uri" : "http://hl7.org/fhir/specimen-contained-preference"},{"uri" : "http://hl7.org/fhir/specimen-status"},{"uri" : "http://hl7.org/fhir/strand-type"},{"uri" : "http://hl7.org/fhir/structure-definition-kind"},{"uri" : "http://hl7.org/fhir/subscription-status"},{"uri" : "http://hl7.org/fhir/substance-status"},{"uri" : "http://hl7.org/fhir/supplydelivery-status"},{"uri" : "http://hl7.org/fhir/supplyrequest-status"},{"uri" : "http://hl7.org/fhir/task-intent"},{"uri" : "http://hl7.org/fhir/task-status"},{"uri" : "http://hl7.org/fhir/transaction-mode"},{"uri" : "http://hl7.org/fhir/trigger-type"},{"uri" : "http://hl7.org/fhir/type-derivation-rule"},{"uri" : "http://hl7.org/fhir/udi-entry-type"},{"uri" : "http://hl7.org/fhir/unknown-content-code"},{"uri" : "http://hl7.org/fhir/us/core/CodeSystem/careplan-category"},{"uri" : "http://hl7.org/fhir/us/core/CodeSystem/condition-category"},{"uri" : "http://hl7.org/fhir/us/core/CodeSystem/us-core-category"},{"uri" : "http://hl7.org/fhir/us/core/CodeSystem/us-core-documentreference-category"},{"uri" : "http://hl7.org/fhir/us/core/CodeSystem/us-core-provenance-participant-type"},{"uri" : "http://hl7.org/fhir/us/core/CodeSystem/us-core-sex-for-clinical-use"},{"uri" : "http://hl7.org/fhir/uv/sdc/CodeSystem/assemble-expectation"},{"uri" : "http://hl7.org/fhir/uv/sdc/CodeSystem/chf-codes"},{"uri" : "http://hl7.org/fhir/uv/sdc/CodeSystem/collapsible"},{"uri" : "http://hl7.org/fhir/uv/sdc/CodeSystem/CSPHQ9"},{"uri" : "http://hl7.org/fhir/uv/sdc/CodeSystem/entryMode"},{"uri" : "http://hl7.org/fhir/uv/sdc/CodeSystem/launchContext"},{"uri" : "http://hl7.org/fhir/uv/sdc/CodeSystem/questionnaire-answer-constraint"},{"uri" : "http://hl7.org/fhir/uv/sdc/CodeSystem/temp"},{"uri" : "http://hl7.org/fhir/variable-type"},{"uri" : "http://hl7.org/fhir/versioning-policy"},{"uri" : "http://hl7.org/fhir/vision-base-codes"},{"uri" : "http://hl7.org/fhir/vision-eye-codes"},{"uri" : "http://hl7.org/fhir/w3c-provenance-activity-type"},{"uri" : 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3

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POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
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Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"TR"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


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4

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
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Accept: application/fhir+json
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{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C99269","display":"Case"},{"code":"C99270","display":"Control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


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422
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content-length:373
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5

Request: 

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Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://example.org/my-dataset/fhir/codesystem/research-encounter-class","code":"survey"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


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200
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access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
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last-modified:Tue, 08 Aug 2023 19:24:08 GMT
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{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : false},{"name" : "x-caused-by-unknown-system","valueCanonical" : "http://example.org/my-dataset/fhir/codesystem/research-encounter-class"},{"name" : "message","valueString" : "The CodeSystem http://example.org/my-dataset/fhir/codesystem/research-encounter-class is unknown"},{"name" : "issues","resource" : {"resourceType" : "OperationOutcome","issue" : [{"severity" : "error","code" : "not-found","details" : {"text" : "The CodeSystem http://example.org/my-dataset/fhir/codesystem/research-encounter-class is unknown"},"location" : ["Coding.system"]}]}}]}

6

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
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Accept-Charset: UTF-8
Accept: application/fhir+json
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{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C2348584","display":"Subject Unique Identifier"},{"code":"C0079399","display":"Gender"},{"code":"C168843","display":"Age in Days at Enrollment"},{"code":"C1305855","display":"Body mass index"},{"code":"C0872128","display":"case control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
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access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:373
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7

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
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Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"http://loinc.org","concept":[{"code":"LP35925-4","display":"Body mass index (BMI)"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

200
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access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
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date:Tue, 08 Aug 2023 19:24:09 GMT
last-modified:Tue, 08 Aug 2023 19:24:09 GMT
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8

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
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Response: 

422
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content-length:601
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{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
The code system definition for http://purl.obolibrary.org/obo/hp.owl is a fragment, so this expansion is not permitted unless the expansion parameter \"incomplete-ok\" has a value of \"true\"
"},"issue" : [{"severity" : "error","code" : "invalid","details" : {"text" : "The code system definition for http://purl.obolibrary.org/obo/hp.owl is a fragment, so this expansion is not permitted unless the expansion parameter \"incomplete-ok\" has a value of \"true\""}}]}

9

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
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{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":true},{"name":"tx-resource","resource":{"resourceType":"CodeSystem","id":"mondo","text":{"status":"generated","div":"
This code system http://purl.obolibrary.org/obo/mondo.owl provides a fragment that includes following codes:
Code
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MONDO:0005072 
neuroblastoma
MONDO:0002749 
extracranial neuroblastoma
MONDO:0008542 
tetralogy of fallot
MONDO:0016054 
cerebral malformation
MONDO:0016033 
Cornelia de Lange syndrome
MONDO:0007130 
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MONDO:0017705 
congenital pulmonary venous return anomaly
"},"url":"http://purl.obolibrary.org/obo/mondo.owl","version":"0.2.0","name":"Mondo","title":"Mondo Disease Ontology","status":"draft","experimental":false,"date":"2023-08-08T19:23:30+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"The Mondo Disease Ontology (Mondo) aims to harmonize disease definitions across the world. The name Mondo comes from the latin word 'mundus' and means 'for the world.'","caseSensitive":true,"content":"fragment","count":3,"concept":[{"code":"MONDO:0005072","display":"neuroblastoma"},{"code":"MONDO:0002749","display":"extracranial neuroblastoma"},{"code":"MONDO:0008542","display":"tetralogy of fallot"},{"code":"MONDO:0016054","display":"cerebral malformation"},{"code":"MONDO:0016033","display":"Cornelia de Lange syndrome"},{"code":"MONDO:0007130","display":"congenital total pulmonary venous return anomaly"},{"code":"MONDO:0017705","display":"congenital pulmonary venous return anomaly"}]}},{"name":"cache-id","valueId":"53c5b03c-4723-4fab-95f9-a9748d2e786b"},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"http://purl.obolibrary.org/obo/mondo.owl","concept":[{"code":"MONDO:0017705","display":"congenital pulmonary venous return anomaly"},{"code":"MONDO:0007130","display":"congenital total pulmonary venous return anomaly"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
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content-length:607
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date:Tue, 08 Aug 2023 19:24:11 GMT
server:nginx
x-request-id:18-360555

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
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10

Request: 

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Accept-Charset: UTF-8
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Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"kg/m2"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
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date:Tue, 08 Aug 2023 19:24:15 GMT
last-modified:Tue, 08 Aug 2023 19:24:15 GMT
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{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "kg/m2"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "kg/m2"}]}

11

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"uL"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
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date:Tue, 08 Aug 2023 19:24:17 GMT
last-modified:Tue, 08 Aug 2023 19:24:17 GMT
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{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "uL"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "uL"}]}

12

Request: 

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
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{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}},{"name":"valueSetMode","valueString":"CHECK_MEMERSHIP_ONLY"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","url":"http://hl7.org/fhir/ValueSet/jurisdiction--2","version":"4.0.1","status":"active","compose":{"include":[{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","filter":[{"property":"class","op":"=","value":"region"}]}]}}},{"name":"cache-id","valueId":"53c5b03c-4723-4fab-95f9-a9748d2e786b"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
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date:Tue, 08 Aug 2023 19:24:20 GMT
last-modified:Tue, 08 Aug 2023 19:24:20 GMT
pragma:no-cache
server:nginx
x-request-id:18-360569

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueCode" : "001"},{"name" : "display","valueString" : "World"}]}

13

Request: 

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}},{"name":"valueSetMode","valueString":"NO_MEMBERSHIP_CHECK"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"jurisdiction","meta":{"lastUpdated":"2019-11-01T09:29:23.356+11:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-wg","valueCode":"vocab"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status","valueCode":"normative"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm","valueInteger":5},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-normative-version","valueCode":"4.0.0"}],"url":"http://hl7.org/fhir/ValueSet/jurisdiction","identifier":[{"system":"urn:ietf:rfc:3986","value":"urn:oid:2.16.840.1.113883.4.642.3.48"}],"version":"4.0.1","name":"Jurisdiction ValueSet","title":"Jurisdiction","status":"active","experimental":false,"date":"2019-11-01T09:29:23+11:00","publisher":"FHIR Project team","contact":[{"telecom":[{"system":"url","value":"http://hl7.org/fhir"}]}],"description":"This value set defines a base set of codes for country, country subdivision and region    for indicating where a resource is intended to be used.   \r\n   \r\n   Note: The codes for countries and country subdivisions are taken from    [ISO 3166](https://www.iso.org/iso-3166-country-codes.html)    while the codes for \"supra-national\" regions are from    [UN Standard country or area codes for statistical use (M49)](http://unstats.un.org/unsd/methods/m49/m49.htm).","compose":{"include":[{"system":"urn:iso:std:iso:3166"},{"system":"urn:iso:std:iso:3166:-2"},{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","filter":[{"property":"class","op":"=","value":"region"}]}]}}},{"name":"cache-id","valueId":"53c5b03c-4723-4fab-95f9-a9748d2e786b"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
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access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:254
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:20 GMT
last-modified:Tue, 08 Aug 2023 19:24:20 GMT
pragma:no-cache
server:nginx
x-request-id:18-360570

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueCode" : "001"},{"name" : "display","valueString" : "World"}]}

14

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unstats.un.org/unsd/methods/m49/m49.htm","code":"001"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:254
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:20 GMT
last-modified:Tue, 08 Aug 2023 19:24:20 GMT
pragma:no-cache
server:nginx
x-request-id:18-360571

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unstats.un.org/unsd/methods/m49/m49.htm"},{"name" : "code","valueCode" : "001"},{"name" : "display","valueString" : "World"}]}

15

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"https://uts.nlm.nih.gov/uts/umls","code":"C99269"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:524
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:23 GMT
last-modified:Tue, 08 Aug 2023 19:24:23 GMT
pragma:no-cache
server:nginx
x-request-id:18-360575

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : false},{"name" : "x-caused-by-unknown-system","valueCanonical" : "https://uts.nlm.nih.gov/uts/umls"},{"name" : "message","valueString" : "The CodeSystem https://uts.nlm.nih.gov/uts/umls is unknown"},{"name" : "issues","resource" : {"resourceType" : "OperationOutcome","issue" : [{"severity" : "error","code" : "not-found","details" : {"text" : "The CodeSystem https://uts.nlm.nih.gov/uts/umls is unknown"},"location" : ["Coding.system"]}]}}]}

16

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LP35925-4"}},{"name":"displayLanguage","valueString":"en-US"},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
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access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:290
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:23 GMT
last-modified:Tue, 08 Aug 2023 19:24:23 GMT
pragma:no-cache
server:nginx
x-request-id:18-360576

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LP35925-4"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Body mass index (BMI)"}]}

17

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"TR"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:274
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:34 GMT
last-modified:Tue, 08 Aug 2023 19:24:34 GMT
pragma:no-cache
server:nginx
x-request-id:18-360584

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "TR"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "TR"}]}

18

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"53037-8","display":"Genetic variation clinical significance [Imp]"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:312
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:34 GMT
last-modified:Tue, 08 Aug 2023 19:24:34 GMT
pragma:no-cache
server:nginx
x-request-id:18-360585

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "53037-8"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Genetic variation clinical significance [Imp]"}]}

19

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA6682-4","display":"Unknown Significance"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:288
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:34 GMT
last-modified:Tue, 08 Aug 2023 19:24:34 GMT
pragma:no-cache
server:nginx
x-request-id:18-360586

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LA6682-4"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Unknown Significance"}]}

20

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"kg/m2"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:280
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:35 GMT
last-modified:Tue, 08 Aug 2023 19:24:35 GMT
pragma:no-cache
server:nginx
x-request-id:18-360587

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "kg/m2"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "kg/m2"}]}

21

Request: 

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"81247-9"}},{"name":"valueSetMode","valueString":"CHECK_MEMERSHIP_ONLY"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","url":"http://hl7.org/fhir/ValueSet/report-codes--0","version":"4.0.1","status":"active","compose":{"include":[{"system":"http://loinc.org"}]}}},{"name":"cache-id","valueId":"53c5b03c-4723-4fab-95f9-a9748d2e786b"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
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access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:309
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:35 GMT
last-modified:Tue, 08 Aug 2023 19:24:35 GMT
pragma:no-cache
server:nginx
x-request-id:18-360588

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "81247-9"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Master HL7 genetic variant reporting panel"}]}

22

Request: 

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"81247-9","display":"Master HL7 genetic variant reporting panel"}},{"name":"valueSetMode","valueString":"NO_MEMBERSHIP_CHECK"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"report-codes","meta":{"lastUpdated":"2019-11-01T09:29:23.356+11:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-wg","valueCode":"oo"}],"url":"http://hl7.org/fhir/ValueSet/report-codes","identifier":[{"system":"urn:ietf:rfc:3986","value":"urn:oid:2.16.840.1.113883.4.642.3.233"}],"version":"4.0.1","name":"LOINCDiagnosticReportCodes","title":"LOINC Diagnostic Report Codes","status":"draft","experimental":false,"date":"2019-11-01T09:29:23+11:00","publisher":"FHIR Project team","contact":[{"telecom":[{"system":"url","value":"http://hl7.org/fhir"}]}],"description":"This value set includes LOINC codes that relate to Diagnostic Observations.","copyright":"This content from LOINC® is copyright © 1995 Regenstrief Institute, Inc. and the LOINC Committee, and available at no cost under the license at http://loinc.org/terms-of-use.","compose":{"include":[{"system":"http://loinc.org"}]}}},{"name":"cache-id","valueId":"53c5b03c-4723-4fab-95f9-a9748d2e786b"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:309
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:35 GMT
last-modified:Tue, 08 Aug 2023 19:24:35 GMT
pragma:no-cache
server:nginx
x-request-id:18-360589

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "81247-9"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Master HL7 genetic variant reporting panel"}]}

23

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"81247-9"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
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access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:309
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:35 GMT
last-modified:Tue, 08 Aug 2023 19:24:35 GMT
pragma:no-cache
server:nginx
x-request-id:18-360590

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "81247-9"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Master HL7 genetic variant reporting panel"}]}

24

Request: 

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"kg/m2"}},{"name":"valueSetMode","valueString":"CHECK_MEMERSHIP_ONLY"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","url":"http://hl7.org/fhir/ValueSet/ucum-units--0","version":"4.0.1","status":"active","compose":{"include":[{"system":"http://unitsofmeasure.org"}]}}},{"name":"cache-id","valueId":"53c5b03c-4723-4fab-95f9-a9748d2e786b"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:280
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:35 GMT
last-modified:Tue, 08 Aug 2023 19:24:35 GMT
pragma:no-cache
server:nginx
x-request-id:18-360592

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "kg/m2"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "kg/m2"}]}

25

Request: 

POST http://tx.fhir.org/r4/ValueSet/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"kg/m2"}},{"name":"valueSetMode","valueString":"NO_MEMBERSHIP_CHECK"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"ucum-units","meta":{"lastUpdated":"2019-11-01T09:29:23.356+11:00","profile":["http://hl7.org/fhir/StructureDefinition/shareablevalueset"]},"extension":[{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-wg","valueCode":"fhir"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-standards-status","valueCode":"trial-use"},{"url":"http://hl7.org/fhir/StructureDefinition/structuredefinition-fmm","valueInteger":0}],"url":"http://hl7.org/fhir/ValueSet/ucum-units","identifier":[{"system":"urn:ietf:rfc:3986","value":"urn:oid:2.16.840.1.113883.4.642.3.912"}],"version":"4.0.1","name":"UCUMCodes","title":"UCUM Codes","status":"draft","experimental":false,"date":"2019-11-01T09:29:23+11:00","publisher":"FHIR Project team","contact":[{"telecom":[{"system":"url","value":"http://hl7.org/fhir"}]}],"description":"Unified Code for Units of Measure (UCUM). This value set includes all UCUM codes","copyright":"The UCUM codes, UCUM table (regardless of format), and UCUM Specification are copyright © 1999-2009, Regenstrief Institute, Inc. and the Unified Codes for Units of Measures (UCUM) Organization. All rights reserved.","compose":{"include":[{"system":"http://unitsofmeasure.org"}]}}},{"name":"cache-id","valueId":"53c5b03c-4723-4fab-95f9-a9748d2e786b"},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:280
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:35 GMT
last-modified:Tue, 08 Aug 2023 19:24:35 GMT
pragma:no-cache
server:nginx
x-request-id:18-360593

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "kg/m2"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "kg/m2"}]}

26

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://unitsofmeasure.org","code":"uL"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:274
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:36 GMT
last-modified:Tue, 08 Aug 2023 19:24:36 GMT
pragma:no-cache
server:nginx
x-request-id:18-360594

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://unitsofmeasure.org"},{"name" : "code","valueCode" : "uL"},{"name" : "version","valueString" : "2.0.1"},{"name" : "display","valueString" : "uL"}]}

27

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://snomed.info/sct","code":"129314006","display":"Biopsy - action"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:344
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:36 GMT
last-modified:Tue, 08 Aug 2023 19:24:36 GMT
pragma:no-cache
server:nginx
x-request-id:18-360595

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://snomed.info/sct"},{"name" : "code","valueCode" : "129314006"},{"name" : "version","valueString" : "http://snomed.info/sct/900000000000207008/version/20230731"},{"name" : "display","valueString" : "Biopsy - action"}]}

28

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://snomed.info/sct","code":"21483005","display":"Structure of central nervous system"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:350
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:36 GMT
last-modified:Tue, 08 Aug 2023 19:24:36 GMT
pragma:no-cache
server:nginx
x-request-id:18-360596

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://snomed.info/sct"},{"name" : "code","valueCode" : "21483005"},{"name" : "version","valueString" : "http://snomed.info/sct/900000000000207008/version/20230731"},{"name" : "display","valueString" : "Central nervous system"}]}

29

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"69548-6","display":"Genetic variant assessment"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:293
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:36 GMT
last-modified:Tue, 08 Aug 2023 19:24:36 GMT
pragma:no-cache
server:nginx
x-request-id:18-360597

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "69548-6"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Genetic variant assessment"}]}

30

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA9633-4","display":"Present"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:275
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:36 GMT
last-modified:Tue, 08 Aug 2023 19:24:36 GMT
pragma:no-cache
server:nginx
x-request-id:18-360598

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LA9633-4"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Present"}]}

31

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA26398-0","display":"Sequencing"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:279
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:36 GMT
last-modified:Tue, 08 Aug 2023 19:24:36 GMT
pragma:no-cache
server:nginx
x-request-id:18-360599

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LA26398-0"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Sequencing"}]}

32

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"48018-6","display":"Gene studied ID"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:284
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:36 GMT
last-modified:Tue, 08 Aug 2023 19:24:36 GMT
pragma:no-cache
server:nginx
x-request-id:18-360600

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "48018-6"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Gene studied [ID]"}]}

33

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"48001-2","display":"Cytogenetic (chromosome) location"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:300
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:36 GMT
last-modified:Tue, 08 Aug 2023 19:24:36 GMT
pragma:no-cache
server:nginx
x-request-id:18-360601

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "48001-2"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Cytogenetic (chromosome) location"}]}

34

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"69547-8","display":"Genomic ref allele [ID]"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:290
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:36 GMT
last-modified:Tue, 08 Aug 2023 19:24:36 GMT
pragma:no-cache
server:nginx
x-request-id:18-360602

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "69547-8"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Genomic ref allele [ID]"}]}

35

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"69551-0","display":"Genomic alt allele [ID]"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:290
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:36 GMT
last-modified:Tue, 08 Aug 2023 19:24:36 GMT
pragma:no-cache
server:nginx
x-request-id:18-360603

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "69551-0"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Genomic alt allele [ID]"}]}

36

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"53034-5","display":"Allelic state"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:280
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:36 GMT
last-modified:Tue, 08 Aug 2023 19:24:36 GMT
pragma:no-cache
server:nginx
x-request-id:18-360604

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "53034-5"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Allelic state"}]}

37

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA6706-1","display":"Heterozygous"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:280
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:36 GMT
last-modified:Tue, 08 Aug 2023 19:24:36 GMT
pragma:no-cache
server:nginx
x-request-id:18-360605

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LA6706-1"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Heterozygous"}]}

38

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"62374-4","display":"Human reference sequence assembly version"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:308
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:36 GMT
last-modified:Tue, 08 Aug 2023 19:24:36 GMT
pragma:no-cache
server:nginx
x-request-id:18-360606

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "62374-4"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Human reference sequence assembly version"}]}

39

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"LA14029-5","display":"GRCh37"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:275
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:36 GMT
last-modified:Tue, 08 Aug 2023 19:24:36 GMT
pragma:no-cache
server:nginx
x-request-id:18-360607

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "LA14029-5"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "GRCh37"}]}

40

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"51958-7","display":"Transcript reference sequence [ID]"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:301
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:36 GMT
last-modified:Tue, 08 Aug 2023 19:24:36 GMT
pragma:no-cache
server:nginx
x-request-id:18-360608

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "51958-7"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "Transcript reference sequence [ID]"}]}

41

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://loinc.org","code":"48004-6","display":"DNA change (c.HGVS)"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

200
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
cache-control:public, max-age=600
connection:keep-alive
content-length:286
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:36 GMT
last-modified:Tue, 08 Aug 2023 19:24:36 GMT
pragma:no-cache
server:nginx
x-request-id:18-360609

{"resourceType" : "Parameters","parameter" : [{"name" : "result","valueBoolean" : true},{"name" : "system","valueUri" : "http://loinc.org"},{"name" : "code","valueCode" : "48004-6"},{"name" : "version","valueString" : "2.74"},{"name" : "display","valueString" : "DNA change (c.HGVS)"}]}

42

Request: 

POST http://tx.fhir.org/r4/CodeSystem/$validate-code? HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"coding","valueCoding":{"system":"http://varnomen.hgvs.org","code":"c.1640A>G","display":"c.1640A>G"}},{"name":"displayLanguage","valueString":"en"},{"name":"default-to-latest-version","valueBoolean":true},{"name":"profile","resource":{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"}]}}]}


Response: 

500
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:427
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:38 GMT
server:nginx
x-request-id:18-360613

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Error parsing HGVS response: Error parsing JSON source: Unexpected char \"<\" in json stream at Line 0 (path=[])
"},"issue" : [{"severity" : "error","details" : {"text" : "Error parsing HGVS response: Error parsing JSON source: Unexpected char \"<\" in json stream at Line 0 (path=[])"}}]}

43

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"excludeNested","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"example-study-data-dictionary-case-control-vs-1","text":{"status":"generated","div":"
Include these codes as defined in https://uts.nlm.nih.gov/uts/umls
Code
Display
C99269
Case
C99270
Control
"},"url":"https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/example-study-data-dictionary-case-control-vs-1","version":"0.2.0","name":"ExampleStudyDataDictionaryCaseControlVS1","title":"Case/Control Vars for 'status' categoricals","status":"draft","date":"2023-08-08T19:23:30+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"Example ValueSet listing all possible 'values' from the Case/Control variable.","compose":{"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C99269","display":"Case"},{"code":"C99270","display":"Control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:373
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:24:51 GMT
server:nginx
x-request-id:18-360634

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]}

44

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":false},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C99269","display":"Case"},{"code":"C99270","display":"Control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:373
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:25:02 GMT
server:nginx
x-request-id:18-360653

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]}

45

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"excludeNested","valueBoolean":false},{"name":"incomplete-ok","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"example-study-data-dictionary-case-control-vs-1","text":{"status":"generated","div":"
Include these codes as defined in https://uts.nlm.nih.gov/uts/umls
Code
Display
C99269
Case
C99270
Control
"},"url":"https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/example-study-data-dictionary-case-control-vs-1","version":"0.2.0","name":"ExampleStudyDataDictionaryCaseControlVS1","title":"Case/Control Vars for 'status' categoricals","status":"draft","date":"2023-08-08T19:23:30+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"Example ValueSet listing all possible 'values' from the Case/Control variable.","compose":{"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C99269","display":"Case"},{"code":"C99270","display":"Control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:373
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:25:02 GMT
server:nginx
x-request-id:18-360656

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]}

46

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":false},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"https://hl7.org/fhir/codesystem-study-design.html"}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:407
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:25:04 GMT
server:nginx
x-request-id:18-360662

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system https://hl7.org/fhir/codesystem-study-design.html
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://hl7.org/fhir/codesystem-study-design.html"}}]}

47

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"excludeNested","valueBoolean":false},{"name":"incomplete-ok","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"study-design","text":{"status":"generated","div":"
Include all codes defined in https://hl7.org/fhir/codesystem-study-design.html
"},"url":"https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/study-design","version":"0.2.0","name":"StudyDesign","title":"Study Design","status":"draft","experimental":false,"date":"2023-08-08T19:23:30+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"This is a set of terms for study design characteristics.","compose":{"include":[{"system":"https://hl7.org/fhir/codesystem-study-design.html"}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:407
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:25:04 GMT
server:nginx
x-request-id:18-360665

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system https://hl7.org/fhir/codesystem-study-design.html
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://hl7.org/fhir/codesystem-study-design.html"}}]}

48

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"excludeNested","valueBoolean":false},{"name":"incomplete-ok","valueBoolean":true},{"name":"tx-resource","resource":{"resourceType":"CodeSystem","id":"hpo","text":{"status":"generated","div":"
Properties
This code system  defines the following properties for its concepts
Code
Type
Description
parent
code
Parent codes.
imported
boolean
Indicates if the concept is imported from another code system.
root
boolean
Indicates if this concept is a root concept (i.e. Thing is equivalent or a direct parent)
deprecated
boolean
Indicates if this concept is deprecated.
Filters
Code
Description
operator
Value
root
= 
True or false.
deprecated
= 
True or false.
imported
= 
True or false
Concepts
This code system http://purl.obolibrary.org/obo/hp.owl provides a fragment that includes following codes:
Code
Display
HP:0000365 
Hearing impairment
HP:0002564 
obsolete Malformation of the heart and great vessels
HP:0001028 
Hemangioma
HP:0000476 
Cystic hygroma
HP:0000568 
Microphthalmia
HP:0000518 
Cataract
HP:0000612 
Iris coloboma
HP:0000567 
Chorioretinal coloboma
HP:0000316 
Hypertelorism
HP:0000482 
Microcornea
HP:0000588 
Optic nerve coloboma
HP:0004426 
Abnormality of the cheek
HP:0009125 
Lipodystrophy
HP:0002023 
Anal atresia
HP:0003468 
Abnormal vertebral morphology
HP:0000545 
Myopia
HP:0000122 
Unilateral renal agenesis
HP:0002143 
Abnormality of the spinal cord
HP:0003508 
Proportionate short stature
HP:0000271 
Abnormality of the face
HP:0000637 
Long palpebral fissure
HP:0000492 
Abnormal eyelid morphology
HP:0000389 
Chronic otitis media
HP:0000400 
Macrotia
HP:0000405 
Conductive hearing impairment
HP:0012712 
Mild hearing impairment
HP:0005280 
Depressed nasal bridge
HP:0000431 
Wide nasal bridge
HP:0000319 
Smooth philtrum
HP:0000175 
Cleft palate
HP:0001611 
Nasal speech
HP:0002099 
Asthma
HP:0001397 
Hepatic steatosis
HP:0001081 
Cholelithiasis
HP:0002650 
Scoliosis
HP:0001212 
Prominent fingertip pads
HP:0001328 
Specific learning disability
HP:0000824 
Growth hormone deficiency
HP:0002607 
Bowel incontinence
HP:0100731 
Transverse facial cleft
HP:0000528 
Anophthalmia
HP:0000601 
Hypotelorism
HP:0000369 
Low-set ears
HP:0001274 
Agenesis of corpus callosum
HP:0002084 
Encephalocele
HP:0007033 
Cerebellar dysplasia
HP:0100336 
Bilateral cleft lip
HP:0100337 
Bilateral cleft palate
HP:0001511 
Intrauterine growth retardation
HP:0011451 
Congenital microcephaly
HP:0000324 
Facial asymmetry
HP:0000581 
Blepharophimosis
HP:0000508 
Ptosis
HP:0008551 
Microtia
HP:0001631 
Atrial septal defect
HP:0000085 
Horseshoe kidney
HP:0011927 
Short digit
HP:0001156 
Brachydactyly
HP:0002066 
Gait ataxia
HP:0001250 
Seizure
HP:0001263 
Global developmental delay
HP:0001562 
Oligohydramnios
HP:0001195 
Single umbilical artery
HP:0006349 
Agenesis of permanent teeth
HP:0000668 
Hypodontia
HP:0000677 
Oligodontia
HP:0001252 
Muscular hypotonia
HP:0003429 
CNS hypomyelination
HP:0010864 
Intellectual disability, severe
HP:0004325 
Decreased body weight
HP:0000666 
Horizontal nystagmus
HP:0000218 
High palate
HP:0010809 
Broad uvula
HP:0000767 
Pectus excavatum
HP:0003691 
Scapular winging
HP:0002616 
Aortic root aneurysm
HP:0001601 
Laryngomalacia
HP:0002021 
Pyloric stenosis
HP:0001388 
Joint laxity
HP:0001187 
Hyperextensibility of the finger joints
HP:0000741 
Apathy
HP:0000817 
Poor eye contact
HP:0000821 
Hypothyroidism
HP:0000002 
Abnormality of body height
HP:0000079 
Abnormality of the urinary system
HP:0000164 
Abnormality of the dentition
HP:0000364 
Hearing abnormality
HP:0000366 
Abnormality of the nose
HP:0000464 
Abnormality of the neck
HP:0000707 
Abnormality of the nervous system
HP:0000708 
Behavioral abnormality
HP:0000769 
Abnormality of the breast
HP:0000772 
Abnormality of the ribs
HP:0000775 
Abnormality of the diaphragm
HP:0000889 
Abnormality of the clavicle
HP:0000925 
Abnormality of the vertebral column
HP:0001080 
Biliary tract abnormality
HP:0001392 
Abnormality of the liver
HP:0001438 
Abnormal abdomen morphology
HP:0001608 
Abnormality of the voice
HP:0001627 
Abnormal heart morphology
HP:0001732 
Abnormality of the pancreas
HP:0001739 
Abnormality of the nasopharynx
HP:0001743 
Abnormality of the spleen
HP:0001760 
Abnormal foot morphology
HP:0001871 
Abnormality of blood and blood-forming tissues
HP:0002031 
Abnormal esophagus morphology
HP:0002244 
Abnormality of the small intestine
HP:0002246 
Abnormality of the duodenum
HP:0002250 
Abnormal large intestine morphology
HP:0002644 
Abnormality of pelvic girdle bone morphology
HP:0002664 
Neoplasm
HP:0002715 
Abnormality of the immune system
HP:0002814 
Abnormality of the lower limb
HP:0002817 
Abnormality of the upper limb
HP:0005483 
Abnormal epiglottis morphology
HP:0008777 
Abnormal vocal cord morphology
HP:0011844 
Abnormal appendicular skeleton morphology
HP:0012732 
Anorectal anomaly
HP:0001508 
Failure to thrive
HP:0002902 
Hyponatremia
HP:0012236 
Elevated sweat chloride
HP:0000347 
Micrognathia
HP:0000926 
Platyspondyly
HP:0001371 
Flexion contracture
HP:0001875 
Neutropenia
HP:0001888 
Lymphopenia
HP:0002857 
Genu valgum
HP:0002986 
Radial bowing
HP:0003015 
Flared metaphysis
HP:0003025 
Metaphyseal irregularity
HP:0003097 
Short femur
HP:0003300 
Ovoid vertebral bodies
HP:0003307 
Hyperlordosis
HP:0004209 
Clinodactyly of the 5th finger
HP:0004322 
Short stature
HP:0005792 
Short humerus
HP:0006248 
Limited wrist movement
HP:0000944 
Abnormality of the metaphysis
HP:0011921 
Exudative pleural effusion
HP:0003043 
Abnormality of the shoulder
HP:0000290 
Abnormality of the forehead
HP:0005288 
Abnormality of the nares
HP:0000234 
Abnormality of the head
HP:0004323 
Abnormality of body weight
HP:0000483 
Astigmatism
HP:0011003 
High myopia
HP:0000470 
Short neck
HP:0030044 
Flexion contracture of digit
HP:0100871 
Abnormality of the palm
HP:0004334 
Dermal atrophy
HP:0001845 
Overlapping toe
HP:0000496 
Abnormality of eye movement
HP:0001780 
Abnormality of toe
HP:0001626 
Abnormality of the cardiovascular system
HP:0002086 
Abnormality of the respiratory system
HP:0000818 
Abnormality of the endocrine system
HP:0012372 
Abnormal eye morphology
HP:0009473 
Joint contracture of the hand
HP:0003199 
Decreased muscle mass
HP:0003202 
Skeletal muscle atrophy
HP:0003551 
Difficulty climbing stairs
HP:0002355 
Difficulty walking
HP:0003546 
Exercise intolerance
HP:0003325 
Limb-girdle muscle weakness
HP:0003701 
Proximal muscle weakness
HP:0003547 
Shoulder girdle muscle weakness
HP:0007340 
Lower limb muscle weakness
HP:0002168 
Scanning speech
HP:0001265 
Hyporeflexia
HP:0001284 
Areflexia
HP:0003477 
Peripheral axonal neuropathy
HP:0000924 
Abnormality of the skeletal system
HP:0001291 
Abnormal cranial nerve morphology
HP:0003687 
Centrally nucleated skeletal muscle fibers
HP:0001324 
Muscle weakness
HP:0002515 
Waddling gait
HP:0100280 
Crohn's disease
HP:0002631 
obsolete Dilatation of ascending aorta
HP:0100026 
Arteriovenous malformation
HP:0002637 
Cerebral ischemia
HP:0002619 
Varicose veins
HP:0001159 
Syndactyly
HP:0002069 
Bilateral tonic-clonic seizure
HP:0000977 
Soft skin
HP:0010648 
Dermal translucency
HP:0000978 
Bruising susceptibility
HP:0001956 
Truncal obesity
HP:0000189 
Narrow palate
HP:0000678 
Dental crowding
HP:0002870 
Obstructive sleep apnea
HP:0001763 
Pes planus
HP:0000782 
Abnormality of the scapula
HP:0001600 
Abnormality of the larynx
HP:0002088 
Abnormal lung morphology
HP:0011407 
Proportionate tall stature
HP:0000541 
Retinal detachment
HP:0001373 
Joint dislocation
HP:0000938 
Osteopenia
HP:0002942 
Thoracic kyphosis
HP:0001840 
Metatarsus adductus
HP:0001844 
Abnormality of the hallux
HP:0001765 
Hammertoe
HP:0000606 
Abnormality of the periorbital region
HP:0002757 
Recurrent fractures
HP:0000647 
Sclerocornea
HP:0001166 
Arachnodactyly
HP:0005490 
Postnatal macrocephaly
HP:0011363 
Abnormality of hair growth rate
HP:0000276 
Long face
HP:0000275 
Narrow face
HP:0000337 
Broad forehead
HP:0002267 
Exaggerated startle response
HP:0002187 
Intellectual disability, profound
HP:0000728 
Impaired ability to form peer relationships
HP:0000733 
Stereotypy
HP:0000739 
Anxiety
HP:0000929 
Abnormal skull morphology
HP:0001965 
Abnormal scalp morphology
HP:0100538 
Abnormality of the supraorbital ridges
HP:0000309 
Abnormality of the midface
HP:0000277 
Abnormality of the mandible
HP:0000765 
Abnormality of the thorax
HP:0100008 
Schwannoma
HP:0030038 
Enchondroma
HP:0100777 
Exostoses
HP:0011663 
Right ventricular cardiomyopathy
HP:0011675 
Arrhythmia
HP:0001962 
Palpitations
HP:0001279 
Syncope
HP:0004756 
Ventricular tachycardia
HP:0000252 
Microcephaly
HP:0000303 
Mandibular prognathia
HP:0000664 
Synophrys
HP:0001609 
Hoarse voice
HP:0002558 
Supernumerary nipple
HP:0001634 
Mitral valve prolapse
HP:0000028 
Cryptorchidism
HP:0000973 
Cutis laxa
HP:0001518 
Small for gestational age
HP:0000527 
Long eyelashes
HP:0002808 
Kyphosis
HP:0000248 
Brachycephaly
HP:0000505 
Visual impairment
HP:0000512 
Abnormal electroretinogram
HP:0000517 
Abnormality of the lens
HP:0000529 
Progressive visual loss
HP:0000586 
Shallow orbits
HP:0000603 
Central scotoma
HP:0000939 
Osteoporosis
HP:0001377 
Limited elbow extension
HP:0001387 
Joint stiffness
HP:0001822 
Hallux valgus
HP:0002657 
Spondylometaphyseal dysplasia
HP:0003026 
Short long bone
HP:0006462 
Generalized bone demineralization
HP:0008873 
Disproportionate short-limb short stature
HP:0008905 
Rhizomelia
HP:0008922 
Childhood-onset short-trunk short stature
HP:0200020 
Corneal erosion
HP:0001172 
Abnormal thumb morphology
HP:0002286 
Fair hair
HP:0010719 
Abnormality of hair texture
HP:0010720 
Abnormal hair pattern
HP:0001635 
Congestive heart failure
HP:0001644 
Dilated cardiomyopathy
HP:0001663 
Ventricular fibrillation
HP:0011712 
Right bundle branch block
HP:0000272 
Malar flattening
HP:0000286 
Epicanthus
HP:0000322 
Short philtrum
HP:0000463 
Anteverted nares
HP:0000494 
Downslanted palpebral fissures
HP:0000543 
Optic disc pallor
HP:0000699 
Diastema
HP:0000773 
Short ribs
HP:0000887 
Cupped ribs
HP:0000946 
Hypoplastic ilia
HP:0000954 
Single transverse palmar crease
HP:0001182 
Tapered finger
HP:0001537 
Umbilical hernia
HP:0002007 
Frontal bossing
HP:0002980 
Femoral bowing
HP:0002982 
Tibial bowing
HP:0003021 
Metaphyseal cupping
HP:0005011 
Mesomelic arm shortening
HP:0008803 
obsolete Narrow sacroiliac notch
HP:0009117 
Aplasia/Hypoplasia of the maxilla
HP:0011220 
Prominent forehead
HP:0012801 
Narrow jaw
HP:0000243 
Trigonocephaly
HP:0000358 
Posteriorly rotated ears
HP:0000411 
Protruding ear
HP:0000646 
Amblyopia
HP:0002812 
Coxa vara
HP:0002970 
Genu varum
HP:0012775 
Stellate iris
HP:0000278 
Retrognathia
HP:0009796 
Branchial cyst
HP:0002474 
Expressive language delay
HP:0007018 
Attention deficit hyperactivity disorder
HP:0003198 
Myopathy
HP:0003324 
Generalized muscle weakness
HP:0003552 
Muscle stiffness
HP:0003554 
Type 2 muscle fiber atrophy
HP:0003557 
Increased variability in muscle fiber diameter
HP:0009025 
Increased connective tissue
HP:0003635 
Loss of subcutaneous adipose tissue in limbs
HP:0002597 
Abnormality of the vasculature
HP:0001649 
Tachycardia
HP:0001638 
Cardiomyopathy
HP:0001654 
Abnormal heart valve morphology
HP:0001671 
Abnormal cardiac septum morphology
HP:0000103 
Polyuria
HP:0000114 
Proximal tubulopathy
HP:0001878 
Hemolytic anemia
HP:0001931 
Hypochromic anemia
HP:0001935 
Microcytic anemia
HP:0001959 
Polydipsia
HP:0001994 
Renal Fanconi syndrome
HP:0002134 
Abnormality of the basal ganglia
HP:0002188 
Delayed CNS myelination
HP:0002908 
Conjugated hyperbilirubinemia
HP:0003774 
Stage 5 chronic kidney disease
HP:0010700 
obsolete Total cataract
HP:0000193 
Bifid uvula
HP:0000219 
Thin upper lip vermilion
HP:0000426 
Prominent nasal bridge
HP:0000452 
Choanal stenosis
HP:0000490 
Deeply set eye
HP:0000540 
Hypermetropia
HP:0000579 
Nasolacrimal duct obstruction
HP:0000684 
Delayed eruption of teeth
HP:0000960 
Sacral dimple
HP:0000998 
Hypertrichosis
HP:0001643 
Patent ductus arteriosus
HP:0010813 
Abnormal number of hair whorls
HP:0012384 
Rhinitis
HP:0012745 
Short palpebral fissure
HP:0000359 
Abnormality of the inner ear
HP:0000429 
Abnormality of the nasal alae
HP:0000436 
Abnormality of the nasal tip
HP:0000499 
Abnormal eyelash morphology
HP:0000534 
Abnormal eyebrow morphology
HP:0000951 
Abnormality of the skin
HP:0001000 
Abnormality of skin pigmentation
HP:0001597 
Abnormality of the nail
HP:0006483 
Abnormal number of teeth
HP:0009929 
Abnormality of the columella
HP:0011119 
Abnormality of the nasal dorsum
HP:0012808 
Abnormal nasal base
HP:0100490 
Camptodactyly of finger
HP:0000964 
Eczema
HP:0004442 
Sagittal craniosynostosis
HP:0000414 
Bulbous nose
HP:0003180 
Flat acetabular roof
HP:0000422 
Abnormality of the nasal bridge
HP:0000614 
Abnormal nasolacrimal system morphology
HP:0001167 
Abnormality of finger
HP:0001595 
Abnormal hair morphology
HP:0012373 
Abnormal eye physiology
HP:0001655 
Patent foramen ovale
HP:0001647 
Bicuspid aortic valve
HP:0000574 
Thick eyebrow
HP:0001169 
Broad palm
HP:0006471 
Fixed elbow flexion
HP:0008689 
Bilateral cryptorchidism
HP:0011304 
Broad thumb
HP:0005110 
Atrial fibrillation
HP:0001633 
Abnormal mitral valve morphology
HP:0001641 
Abnormal pulmonary valve morphology
HP:0001702 
Abnormal tricuspid valve morphology
HP:0000012 
Urinary urgency
HP:0000020 
Urinary incontinence
HP:0000131 
Uterine leiomyoma
HP:0000132 
Menorrhagia
HP:0000138 
Ovarian cyst
HP:0000853 
Goiter
HP:0000953 
Hyperpigmentation of the skin
HP:0001061 
Acne
HP:0002315 
Headache
HP:0004324 
Increased body weight
HP:0000069 
Abnormality of the ureter
HP:0000077 
Abnormality of the kidney
HP:0000759 
Abnormal peripheral nervous system morphology
HP:0008069 
Neoplasm of the skin
HP:0011276 
Vascular skin abnormality
HP:0000705 
Amelogenesis imperfecta
HP:0001256 
Intellectual disability, mild
HP:0000325 
Triangular face
HP:0000160 
Narrow mouth
HP:0009487 
Ulnar deviation of the hand
HP:0001249 
Intellectual disability
HP:0008064 
Ichthyosis
HP:0000311 
Round face
HP:0001653 
Mitral regurgitation
HP:0001771 
Achilles tendon contracture
HP:0012032 
Lipoma
HP:0012368 
Flat face
HP:0030053 
Stiff skin
HP:0011124 
Abnormality of epidermal morphology
HP:0011097 
Epileptic spasm
HP:0000407 
Sensorineural hearing impairment
HP:0000331 
Short chin
HP:0000340 
Sloping forehead
HP:0000486 
Strabismus
HP:0000713 
Agitation
HP:0000802 
Impotence
HP:0001272 
Cerebellar atrophy
HP:0001276 
Hypertonia
HP:0001321 
Cerebellar hypoplasia
HP:0001322 
obsolete Brain very small
HP:0002061 
Lower limb spasticity
HP:0002529 
Neuronal loss in central nervous system
HP:0002540 
Inability to walk
HP:0005484 
Postnatal microcephaly
HP:0012850 
Small intestinal dysmotility
HP:0000504 
Abnormality of vision
HP:0002118 
Abnormality of the cerebral ventricles
HP:0002363 
Abnormality of brainstem morphology
HP:0010651 
Abnormal meningeal morphology
HP:0100024 
Conspicuously happy disposition
HP:0002538 
Abnormality of the cerebral cortex
HP:0000054 
Micropenis
HP:0000215 
Thick upper lip vermilion
HP:0000293 
Full cheeks
HP:0000349 
Widow's peak
HP:0000444 
Convex nasal ridge
HP:0000506 
Telecanthus
HP:0000592 
Blue sclerae
HP:0000691 
Microdontia
HP:0000698 
Conical tooth
HP:0002000 
Short columella
HP:0002097 
Emphysema
HP:0002209 
Sparse scalp hair
HP:0002816 
Genu recurvatum
HP:0005116 
Arterial tortuosity
HP:0007957 
Corneal opacity
HP:0008070 
Sparse hair
HP:0009623 
Proximal placement of thumb
HP:0010055 
Broad hallux
HP:0011318 
Bicoronal synostosis
HP:0011968 
Feeding difficulties
HP:0200067 
Recurrent spontaneous abortion
HP:0011819 
Submucous cleft soft palate
HP:0000268 
Dolichocephaly
HP:0003302 
Spondylolisthesis
HP:0000582 
Upslanted palpebral fissure
HP:0000952 
Jaundice
HP:0001298 
Encephalopathy
HP:0001396 
Cholestasis
HP:0002059 
Cerebral atrophy
HP:0002171 
Gliosis
HP:0002240 
Hepatomegaly
HP:0002353 
EEG abnormality
HP:0002446 
Astrocytosis
HP:0003287 
Abnormality of mitochondrial metabolism
HP:0011449 
Knee clonus
HP:0012852 
Hepatic bridging fibrosis
HP:0100626 
Chronic hepatic failure
HP:0000385 
Small earlobe
HP:0009748 
Large earlobe
HP:0000157 
Abnormality of the tongue
HP:0000172 
Abnormality of the uvula
HP:0000174 
Abnormal palate morphology
HP:0000306 
Abnormality of the chin
HP:0004408 
Abnormality of the sense of smell
HP:0009912 
Abnormality of the tragus
HP:0000537 
Epicanthus inversus
HP:0000565 
Esotropia
HP:0000752 
Hyperactivity
HP:0003186 
Inverted nipples
HP:0012503 
Abnormality of the pituitary gland
HP:0100710 
Impulsivity
HP:0000357 
Abnormal location of ears
HP:0000820 
Abnormality of the thyroid gland
HP:0000828 
Abnormality of the parathyroid gland
HP:0000834 
Abnormality of the adrenal glands
HP:0012093 
Abnormality of endocrine pancreas physiology
HP:0000269 
Prominent occiput
HP:0000535 
Sparse and thin eyebrow
HP:0000639 
Nystagmus
HP:0000718 
Aggressive behavior
HP:0000957 
Cafe-au-lait spot
HP:0000256 
Macrocephaly
HP:0000750 
Delayed speech and language development
HP:0000963 
Thin skin
HP:0001260 
Dysarthria
HP:0002194 
Delayed gross motor development
HP:0003196 
Short nose
HP:0001155 
Abnormality of the hand
HP:0100022 
Abnormality of movement
HP:0010862 
Delayed fine motor development
HP:0000343 
Long philtrum
HP:0000717 
Autism
HP:0001883 
Talipes
HP:0002553 
Highly arched eyebrow
HP:0007488 
Diffuse skin atrophy
HP:0000822 
Hypertension
HP:0001278 
Orthostatic hypotension
HP:0001944 
Dehydration
HP:0001945 
Fever
HP:0002019 
Constipation
HP:0002020 
Gastroesophageal reflux
HP:0002027 
Abdominal pain
HP:0002718 
Recurrent bacterial infections
HP:0002841 
Recurrent fungal infections
HP:0004395 
Malnutrition
HP:0009830 
Peripheral neuropathy
HP:0000126 
Hydronephrosis
HP:0000519 
Developmental cataract
HP:0000648 
Optic atrophy
HP:0001053 
Hypopigmented skin patches
HP:0001087 
Developmental glaucoma
HP:0002119 
Ventriculomegaly
HP:0002280 
Enlarged cisterna magna
HP:0003298 
Spina bifida occulta
HP:0004467 
Preauricular pit
HP:0008511 
Central posterior corneal opacity
HP:0010780 
Hyperacusis
HP:0030048 
Colpocephaly
HP:0100335 
Non-midline cleft lip
HP:0000525 
Abnormality iris morphology
HP:0002719 
Recurrent infections
HP:0000153 
Abnormality of the mouth
HP:0001903 
Anemia
HP:0002094 
Dyspnea
HP:0002206 
Pulmonary fibrosis
HP:0002789 
Tachypnea
HP:0002793 
Abnormal pattern of respiration
HP:0003565 
Elevated erythrocyte sedimentation rate
HP:0006517 
Intraalveolar phospholipid accumulation
HP:0006530 
Interstitial pulmonary abnormality
HP:0100759 
Clubbing of fingers
HP:0002103 
Abnormal pleura morphology
HP:0001596 
Alopecia
HP:0001882 
Leukopenia
HP:0002013 
Vomiting
HP:0002028 
Chronic diarrhea
HP:0002573 
Hematochezia
HP:0002960 
Autoimmunity
HP:0005387 
Combined immunodeficiency
HP:0011109 
Chronic sinusitis
HP:0004429 
Recurrent viral infections
HP:0000280 
Coarse facial features
HP:0000294 
Low anterior hairline
HP:0000577 
Exotropia
HP:0001873 
Thrombocytopenia
HP:0002011 
Morphological central nervous system abnormality
HP:0006610 
Wide intermamillary distance
HP:0011231 
Prominent eyelashes
HP:0012718 
Morphological abnormality of the gastrointestinal tract
HP:0002024 
Malabsorption
HP:0001394 
Cirrhosis
HP:0001414 
Microvesicular hepatic steatosis
HP:0001403 
Macrovesicular hepatic steatosis
HP:0001410 
Decreased liver function
HP:0001409 
Portal hypertension
HP:0001744 
Splenomegaly
HP:0003394 
Muscle spasm
HP:0003750 
Increased muscle fatiguability
HP:0002123 
Generalized myoclonic seizure
HP:0002219 
Facial hypertrichosis
HP:0000831 
Insulin-resistant diabetes mellitus
HP:0001891 
Iron deficiency anemia
HP:0001264 
Spastic diplegia
HP:0002313 
Spastic paraparesis
HP:0001347 
Hyperreflexia
HP:0002460 
Distal muscle weakness
HP:0000763 
Sensory neuropathy
HP:0001268 
Mental deterioration
HP:0002169 
Clonus
HP:0001332 
Dystonia
HP:0100716 
Self-injurious behavior
HP:0000602 
Ophthalmoplegia
HP:0001251 
Ataxia
HP:0000776 
Congenital diaphragmatic hernia
HP:0000410 
Mixed hearing impairment
HP:0000510 
Rod-cone dystrophy
HP:0004437 
Cranial hyperostosis
HP:0011001 
Increased bone mineral density
HP:0000956 
Acanthosis nigricans
HP:0000958 
Dry skin
HP:0000580 
Pigmentary retinopathy
HP:0000649 
Abnormality of visual evoked potentials
HP:0000657 
Oculomotor apraxia
HP:0000479 
Abnormal retinal morphology
HP:0001317 
Abnormal cerebellum morphology
HP:0001533 
Slender build
HP:0001629 
Ventricular septal defect
HP:0000703 
Dentinogenesis imperfecta
HP:0000914 
Shield chest
HP:0001500 
Broad finger
HP:0003086 
Acromesomelia
HP:0003416 
Spinal canal stenosis
HP:0002815 
Abnormality of the knee
HP:0002992 
Abnormality of tibia morphology
HP:0001639 
Hypertrophic cardiomyopathy
HP:0003236 
Elevated serum creatine kinase
HP:0001369 
Arthritis
HP:0003560 
Muscular dystrophy
HP:0003974 
Absent radius
HP:0002818 
Abnormality of the radius
HP:0001561 
Polyhydramnios
HP:0002299 
Brittle hair
HP:0002208 
Coarse hair
HP:0002213 
Fine hair
HP:0000522 
Alacrima
HP:0100704 
Cerebral visual impairment
HP:0012713 
Moderate hearing impairment
HP:0002307 
Drooling
HP:0002714 
Downturned corners of mouth
HP:0000191 
Accessory oral frenulum
HP:0000158 
Macroglossia
HP:0012020 
Right aortic arch
HP:0002104 
Apnea
HP:0000598 
Abnormality of the ear
HP:0007874 
Almond-shaped palpebral fissure
HP:0010804 
Tented upper lip vermilion
HP:0000885 
Broad ribs
HP:0000768 
Pectus carinatum
HP:0001680 
Coarctation of aorta
HP:0000687 
Widely spaced teeth
HP:0000047 
Hypospadias
HP:0001943 
Hypoglycemia
HP:0012369 
Abnormality of malar bones
HP:0009900 
Unilateral deafness
HP:0000023 
Inguinal hernia
HP:0000074 
Ureteropelvic junction obstruction
HP:0001800 
Hypoplastic toenails
HP:0001804 
Hypoplastic fingernail
HP:0002949 
Fused cervical vertebrae
HP:0008050 
Abnormality of the palpebral fissures
HP:0008577 
Underfolded helix
HP:0008589 
Hypoplastic helices
HP:0010863 
Receptive language delay
HP:0002282 
Gray matter heterotopia
HP:0002085 
Occipital encephalocele
HP:0001057 
Aplasia cutis congenita
HP:0000211 
Trismus
HP:0008422 
Vertebral wedging
HP:0003170 
Abnormality of the acetabulum
HP:0003272 
Abnormality of the hip bone
HP:0003028 
Abnormality of the ankles
HP:0003301 
Irregular vertebral endplates
HP:0010508 
Metatarsus valgus
HP:0009811 
Abnormality of the elbow
HP:0000736 
Short attention span
HP:0002912 
Methylmalonic acidemia
HP:0001941 
Acidosis
HP:0001992 
Organic aciduria
HP:0009027 
Foot dorsiflexor weakness
HP:0002063 
Rigidity
HP:0000384 
Preauricular skin tag
HP:0200046 
Cat cry
HP:0001357 
Plagiocephaly
HP:0000670 
Carious teeth
HP:0011090 
Fused teeth
HP:0012810 
Wide nasal base
HP:0010296 
Ankyloglossia
HP:0001636 
Tetralogy of Fallot
HP:0001305 
Dandy-Walker malformation
HP:0000238 
Hydrocephalus
HP:0005469 
Flat occiput
HP:0000270 
Delayed cranial suture closure
HP:0000239 
Large fontanelles
HP:0010537 
Wide cranial sutures
HP:0002217 
Slow-growing hair
HP:0000587 
Abnormality of the optic nerve
HP:0005989 
Redundant neck skin
HP:0010775 
Vascular ring
HP:0002779 
Tracheomalacia
HP:0002827 
Hip dislocation
HP:0001302 
Pachygyria
HP:0007362 
Aplasia/Hypoplasia of the brainstem
HP:0001558 
Decreased fetal movement
HP:0010878 
Fetal cystic hygroma
HP:0011398 
Central hypotonia
HP:0002071 
Abnormality of extrapyramidal motor function
HP:0000826 
Precocious puberty
HP:0000014 
Abnormality of the bladder
HP:0005037 
Proximal radio-ulnar synostosis
HP:0100543 
Cognitive impairment
HP:0000481 
Abnormal cornea morphology
HP:0000076 
Vesicoureteral reflux
HP:0000297 
Facial hypotonia
HP:0000391 
Thickened helices
HP:0001162 
Postaxial hand polydactyly
HP:0001385 
Hip dysplasia
HP:0002342 
Intellectual disability, moderate
HP:0003191 
Cleft ala nasi
HP:0009765 
Low hanging columella
HP:0010297 
Bifid tongue
HP:0011330 
Metopic synostosis
HP:0012804 
Corneal ulceration
HP:0010485 
Hyperextensibility at elbow
HP:0000609 
Optic nerve hypoplasia
HP:0001176 
Large hands
HP:0004233 
Advanced ossification of carpal bones
HP:0100842 
Septo-optic dysplasia
HP:0002034 
Abnormality of the rectum
HP:0002283 
Global brain atrophy
HP:0003115 
Abnormal EKG
HP:0002577 
Abnormal stomach morphology
HP:0002539 
Cortical dysplasia
HP:0006818 
4-layered lissencephaly
HP:0000593 
Abnormal anterior chamber morphology
HP:0000179 
Thick lower lip vermilion
HP:0002002 
Deep philtrum
HP:0009931 
Enlarged naris
HP:0002948 
Vertebral fusion
HP:0002937 
Hemivertebrae
HP:0002308 
Arnold-Chiari malformation
HP:0011320 
Unilambdoid synostosis
HP:0002781 
Upper airway obstruction
HP:0001363 
Craniosynostosis
HP:0000204 
Cleft upper lip
HP:0001738 
Exocrine pancreatic insufficiency
HP:0002823 
Abnormality of femur morphology
HP:0000823 
Delayed puberty
HP:0100279 
Ulcerative colitis
HP:0003834 
Shoulder dislocation
HP:0001065 
Striae distensae
HP:0000448 
Prominent nose
HP:0000554 
Uveitis
HP:0001006 
obsolete Hypotrichosis
HP:0000501 
Glaucoma
HP:0000262 
Turricephaly
HP:0000729 
Autistic behavior
HP:0010800 
Absent cupid's bow
HP:0010808 
Protruding tongue
HP:0009927 
Aplasia of the nose
HP:0100539 
Periorbital edema
HP:0000629 
Periorbital fullness
HP:0000178 
Abnormality of lower lip
HP:0000168 
Abnormality of the gingiva
HP:0001022 
Albinism
HP:0000177 
Abnormality of upper lip
HP:0001337 
Tremor
HP:0002135 
Basal ganglia calcification
HP:0002352 
Leukoencephalopathy
HP:0002514 
Cerebral calcification
HP:0010576 
Intracranial cystic lesion
HP:0001622 
Premature birth
HP:0002415 
Leukodystrophy
HP:0001320 
Cerebellar vermis hypoplasia
HP:0001773 
Short foot
HP:0002750 
Delayed skeletal maturation
HP:0004415 
Pulmonary artery stenosis
HP:0012741 
Unilateral cryptorchidism
HP:0000036 
Abnormality of the penis
HP:0002408 
Cerebral arteriovenous malformation
HP:0007457 
Prominent veins on trunk
HP:0000378 
Cupped ear
HP:0000396 
Overfolded helix
HP:0000035 
Abnormal testis morphology
HP:0009895 
Abnormality of the crus of the helix
HP:0000034 
Hydrocele testis
HP:0000722 
Obsessive-compulsive behavior
HP:0000845 
Growth hormone excess
HP:0100829 
Galactorrhea
HP:0001578 
Increased circulating cortisol level
HP:0000786 
Primary amenorrhea
HP:0001701 
Pericarditis
HP:0002076 
Migraine
HP:0004755 
Supraventricular tachycardia
HP:0010522 
Dyslexia
HP:0004313 
Decreased circulating antibody level
HP:0000011 
Neurogenic bladder
HP:0000641 
Dysmetric saccades
HP:0007772 
Impaired smooth pursuit
HP:0001583 
Rotary nystagmus
HP:0010544 
Vertical nystagmus
HP:0012735 
Cough
HP:0002075 
Dysdiadochokinesis
HP:0007256 
Abnormal pyramidal sign
HP:0001257 
Spasticity
HP:0002321 
Vertigo
HP:0002384 
Focal impaired awareness seizure
HP:0011376 
Morphological abnormality of the vestibule of the inner ear
HP:0002326 
Transient ischemic attack
HP:0005584 
Renal cell carcinoma
HP:0003124 
Hypercholesterolemia
HP:0003002 
Breast carcinoma
HP:0004953 
obsolete Dilatation of abdominal aorta
HP:0004944 
Dilatation of the cerebral artery
HP:0000100 
Nephrotic syndrome
HP:0002783 
Recurrent lower respiratory tract infections
HP:0003470 
Paralysis
HP:0006597 
Diaphragmatic paralysis
HP:0008151 
Prolonged prothrombin time
HP:0010628 
Facial palsy
HP:0011892 
Low levels of vitamin K
HP:0001075 
Atrophic scars
HP:0001816 
Thin nail
HP:0002216 
Premature graying of hair
HP:0003401 
Paresthesia
HP:0100134 
Abnormality of the axillary hair
HP:0100797 
Toenail dysplasia
HP:0010461 
Abnormality of the male genitalia
HP:0000044 
Hypogonadotropic hypogonadism
HP:0100568 
Neoplasm of the endocrine system
HP:0001646 
Abnormal aortic valve morphology
HP:0000813 
Bicornuate uterus
HP:0004380 
Aortic valve calcification
HP:0001650 
Aortic valve stenosis
HP:0000073 
Ureteral duplication
HP:0100651 
Type I diabetes mellitus
HP:0000819 
Diabetes mellitus
HP:0000573 
Retinal hemorrhage
HP:0005264 
Abnormality of the gallbladder
HP:0000475 
Broad neck
HP:0000089 
Renal hypoplasia
HP:0000921 
Missing ribs
HP:0001789 
Hydrops fetalis
HP:0002089 
Pulmonary hypoplasia
HP:0003422 
Vertebral segmentation defect
HP:0002323 
Anencephaly
HP:0000341 
Narrow forehead
HP:0002869 
Flared iliac wings
HP:0003100 
Slender long bone
HP:0003275 
Narrow pelvis bone
HP:0009891 
Underdeveloped supraorbital ridges
HP:0011039 
Abnormality of the helix
HP:0008572 
External ear malformation
HP:0009738 
Abnormality of the antihelix
HP:0011328 
Abnormality of fontanelles
HP:0012155 
Decreased corneal sensation
HP:0004602 
Cervical C2/C3 vertebral fusion
HP:0002997 
Abnormality of the ulna
HP:0009777 
Absent thumb
HP:0002893 
Pituitary adenoma
HP:0040278 
Prolactinoma
HP:0001555 
Asymmetry of the thorax
HP:0000902 
Rib fusion
HP:0002164 
Nail dysplasia
HP:0011314 
Abnormality of long bone morphology
HP:0002867 
Abnormality of the ilium
HP:0000774 
Narrow chest
HP:0006482 
Abnormality of dental morphology
HP:0004383 
Hypoplastic left heart
HP:0002015 
Dysphagia
HP:0500093 
Food allergy
HP:0001519 
Disproportionate tall stature
HP:0003179 
Protrusio acetabuli
HP:0007385 
Aplasia cutis congenita of scalp
HP:0000716 
Depressivity
HP:0012583 
Unilateral renal hypoplasia
HP:0000618 
Blindness
HP:0001004 
Lymphedema
HP:0002652 
Skeletal dysplasia
HP:0012520 
Perivascular spaces
HP:0005293 
Venous insufficiency
HP:0012432 
Chronic fatigue
HP:0002578 
Gastroparesis
HP:0001658 
Myocardial infarction
HP:0001802 
Absent toenail
HP:0001821 
Broad nail
HP:0000807 
Glandular hypospadias
HP:0100582 
Nasal polyposis
HP:0002653 
Bone pain
HP:0001073 
Cigarette-paper scars
HP:0031913 
Rhombencephalosynapsis
HP:0002617 
Dilatation
HP:0005107 
Abnormal sacrum morphology
HP:0002025 
Anal stenosis
HP:0009099 
Median cleft palate
HP:0003212 
Increased circulating IgE level
HP:0001319 
Neonatal hypotonia
HP:0002659 
Increased susceptibility to fractures
HP:0025246 
Trichilemmal cyst
HP:0002107 
Pneumothorax
HP:0000107 
Renal cyst
HP:0001025 
Urticaria
HP:0002204 
Pulmonary embolism
HP:0001058 
Poor wound healing
HP:0003010 
Prolonged bleeding time
HP:0100502 
Vitamin B12 deficiency
HP:0100510 
Low levels of vitamin C
HP:0030976 
Abnormal factor VIII activity
HP:0100789 
Torus palatinus
HP:0000108 
Renal corticomedullary cysts
HP:0000072 
Hydroureter
HP:0000019 
Urinary hesitancy
HP:0100771 
Hypoperistalsis
HP:0000021 
Megacystis
HP:0004388 
Microcolon
HP:0005247 
Hypoplasia of the abdominal wall musculature
HP:0004794 
Malrotation of small bowel
HP:0000045 
Abnormality of the scrotum
HP:0002236 
Frontal upsweep of hair
HP:0000212 
Gingival overgrowth
HP:0001808 
Fragile nails
HP:0000225 
Gingival bleeding
HP:0006009 
Broad phalanx
HP:0001837 
Broad toe
HP:0001946 
Ketosis
HP:0002490 
Increased CSF lactate
HP:0002922 
Increased CSF protein
HP:0003128 
Lactic acidosis
HP:0003111 
Abnormal blood ion concentration
HP:0032234 
Increased circulating creatine kinase MM isoform
HP:0003348 
Hyperalaninemia
HP:0008347 
Decreased activity of mitochondrial complex IV
HP:0000326 
Abnormality of the maxilla
HP:0010758 
Abnormality of the premaxilla
HP:0005681 
Juvenile rheumatoid arthritis
HP:0000514 
Slow saccadic eye movements
HP:0002788 
Recurrent upper respiratory tract infections
HP:0003396 
Syringomyelia
HP:0003011 
Abnormality of the musculature
HP:0002098 
Respiratory distress
HP:0002018 
Nausea
HP:0002014 
Diarrhea
HP:0025168 
Left ventricular diastolic dysfunction
HP:0001679 
Abnormal aortic morphology
HP:0000159 
Abnormal lip morphology
HP:0011338 
Abnormality of mouth shape
HP:0000478 
Abnormality of the eye
HP:0000154 
Wide mouth
HP:0001513 
Obesity
HP:0002475 
Myelomeningocele
HP:0003765 
Psoriasiform dermatitis
HP:0010289 
Cleft of alveolar ridge of maxilla
HP:0003908 
Corner fracture of metaphysis
HP:0002190 
Choroid plexus cyst
HP:0004370 
Abnormality of temperature regulation
HP:0011611 
Interrupted aortic arch
HP:0000737 
Irritability
HP:0001344 
Absent speech
HP:0002376 
Developmental regression
HP:0002140 
Ischemic stroke
HP:0001287 
Meningitis
HP:0002721 
Immunodeficiency
HP:0000041 
Chordee
HP:0012854 
Midshaft hypospadias
HP:0000808 
Penoscrotal hypospadias
HP:0000048 
Bifid scrotum
HP:0001047 
Atopic dermatitis
HP:0001621 
Weak voice
HP:0002372 
Normal interictal EEG
HP:0012803 
Anisometropia
HP:0011386 
Narrow internal auditory canal
HP:0012714 
Severe hearing impairment
HP:0006485 
Agenesis of incisor
HP:0000787 
Nephrolithiasis
HP:0011332 
Hemifacial hypoplasia
HP:0001909 
Leukemia
HP:0004808 
Acute myeloid leukemia
HP:0006495 
Aplasia/Hypoplasia of the ulna
HP:0001180 
Hand oligodactyly
HP:0002991 
Abnormality of fibula morphology
HP:0001849 
Foot oligodactyly
HP:0006507 
Aplasia/hypoplasia of the humerus
HP:0005613 
Aplasia/hypoplasia of the femur
HP:0006492 
Aplasia/Hypoplasia of the fibula
HP:0000098 
Tall stature
HP:0003311 
Hypoplasia of the odontoid process
HP:0005752 
Flattened moderately deformed vertebrae
HP:0030039 
Fused thoracic vertebrae
HP:0003304 
Spondylolysis
HP:0001659 
Aortic regurgitation
HP:0002984 
Hypoplasia of the radius
HP:0009944 
Partial duplication of thumb phalanx
HP:0005819 
Short middle phalanx of finger
HP:0002110 
Bronchiectasis
HP:0001677 
Coronary artery atherosclerosis
HP:0001737 
Pancreatic cysts
HP:0005113 
Aortic arch aneurysm
HP:0003022 
Hypoplasia of the ulna
HP:0002205 
Recurrent respiratory infections
HP:0001669 
Transposition of the great arteries
HP:0001716 
Wolff-Parkinson-White syndrome
HP:0002758 
Osteoarthritis
HP:0002037 
Inflammation of the large intestine
HP:0009892 
Anotia
HP:0011331 
Hemifacial atrophy
HP:0009118 
Aplasia/Hypoplasia of the mandible
HP:0009940 
Asymmetry of the mandible
HP:0000682 
Abnormality of dental enamel
HP:0009908 
Anterior creases of earlobe
HP:0001541 
Ascites
HP:0006687 
Aortic tortuosity
HP:0010535 
Sleep apnea
HP:0100633 
Esophagitis
HP:0002105 
Hemoptysis
HP:0002613 
Biliary cirrhosis
HP:0004469 
Chronic bronchitis
HP:0002720 
Decreased circulating IgA level
HP:0002904 
Hyperbilirubinemia
HP:0003237 
Increased circulating IgG level
HP:0003262 
Smooth muscle antibody positivity
HP:0011227 
Elevated C-reactive protein level
HP:0001852 
Sandal gap
HP:0004381 
Supravalvular aortic stenosis
HP:0100700 
Abnormal arachnoid mater morphology
HP:0002624 
Abnormal venous morphology
HP:0002289 
Alopecia universalis
HP:0009588 
Vestibular Schwannoma
HP:0001648 
Cor pulmonale
HP:0002091 
Restrictive ventilatory defect
HP:0002092 
Pulmonary arterial hypertension
HP:0002113 
Pulmonary infiltrates
HP:0003138 
Increased blood urea nitrogen
HP:0003259 
Elevated serum creatinine
HP:0005180 
Tricuspid regurgitation
HP:0012585 
Renal atrophy
HP:0005133 
Right ventricular dilatation
HP:0005575 
Hemolytic-uremic syndrome
HP:0001697 
Abnormal pericardium morphology
HP:0012486 
Myelitis
HP:0002385 
Paraparesis
HP:0006706 
Cystic liver disease
HP:0010880 
Increased nuchal translucency
HP:0000457 
Depressed nasal ridge
HP:0002263 
Exaggerated cupid's bow
HP:0002500 
Abnormality of the cerebral white matter
HP:0002835 
Aspiration
HP:0000600 
Abnormality of the pharynx
HP:0004327 
Abnormal vitreous humor morphology
HP:0004378 
Abnormality of the anus
HP:0012374 
obsolete Abnormal globe morphology
HP:0100768 
Choriocarcinoma
HP:0030991 
Sclerosing cholangitis
HP:0006510 
Chronic pulmonary obstruction
HP:0000710 
Hyperorality
HP:0001270 
Motor delay
HP:0001548 
Overgrowth
HP:0002311 
Incoordination
HP:0006288 
Advanced eruption of teeth
HP:0006323 
Premature loss of primary teeth
HP:0009890 
High anterior hairline
HP:0100034 
Motor tics
HP:0100035 
Phonic tics
HP:0000348 
High forehead
HP:0001520 
Large for gestational age
HP:0001239 
Wrist flexion contracture
HP:0007359 
Focal-onset seizure
HP:0000430 
Underdeveloped nasal alae
HP:0007400 
Irregular hyperpigmentation
HP:0100495 
Mastocytosis
HP:0012378 
Fatigue
HP:0002046 
Heat intolerance
HP:0003270 
Abdominal distention
HP:0002180 
Neurodegeneration
HP:0003493 
Antinuclear antibody positivity
HP:0030057 
Autoimmune antibody positivity
HP:0006802 
Abnormal anterior horn cell morphology
HP:0000064 
Hypoplastic labia minora
HP:0000338 
Hypomimic face
HP:0001642 
Pulmonic stenosis
HP:0011344 
Severe global developmental delay
HP:0200007 
Abnormal size of the palpebral fissures
HP:0004464 
Postauricular pit
HP:0000130 
Abnormality of the uterus
HP:0000137 
Abnormality of the ovary
HP:0000142 
Abnormal vagina morphology
HP:0000370 
Abnormality of the middle ear
HP:0011787 
Central hypothyroidism
HP:0000274 
Small face
HP:0000446 
Narrow nasal bridge
HP:0000622 
Blurred vision
HP:0001245 
Small thenar eminence
HP:0009601 
Aplasia/Hypoplasia of the thumb
HP:0011343 
Moderate global developmental delay
HP:0000419 
Abnormality of the nasal septum
HP:0000502 
Abnormal conjunctiva morphology
HP:0000591 
Abnormal sclera morphology
HP:0000615 
Abnormal pupil morphology
HP:0001163 
Abnormality of the metacarpal bones
HP:0001832 
Abnormal metatarsal morphology
HP:0001850 
Abnormality of the tarsal bones
HP:0010490 
Abnormality of the palmar creases
HP:0010881 
Abnormality of the umbilical cord
HP:0009113 
Diaphragmatic weakness
HP:0011664 
Left ventricular noncompaction cardiomyopathy
HP:0100240 
Synostosis of joints
HP:0001838 
Rocker bottom foot
HP:0003717 
Minimal subcutaneous fat
HP:0001339 
Lissencephaly
HP:0001591 
Bell-shaped thorax
HP:0002655 
Spondyloepiphyseal dysplasia
HP:0002983 
Micromelia
HP:0003016 
Metaphyseal widening
HP:0009826 
Limb undergrowth
HP:0004488 
Macrocephaly at birth
HP:0001695 
Cardiac arrest
HP:0001712 
Left ventricular hypertrophy
HP:0100775 
Dural ectasia
HP:0000846 
Adrenal insufficiency
HP:0002925 
Increased thyroid-stimulating hormone level
HP:0100646 
Thyroiditis
HP:0000836 
Hyperthyroidism
HP:0004414 
Abnormality of the pulmonary artery
HP:0000465 
Webbed neck
HP:0000723 
Restrictive behavior
HP:0002253 
Colonic diverticula
HP:0001310 
Dysmetria
HP:0000093 
Proteinuria
HP:0002907 
Microscopic hematuria
HP:0003073 
Hypoalbuminemia
HP:0004315 
Decreased circulating IgG level
HP:0000795 
Abnormality of the urethra
HP:0001015 
Prominent superficial veins
HP:0004691 
2-3 toe syndactyly
HP:0005328 
Progeroid facial appearance
HP:0005487 
Prominent metopic ridge
HP:0007552 
Abnormal subcutaneous fat tissue distribution
HP:0100678 
Premature skin wrinkling
HP:0031137 
Storage in hepatocytes
HP:0002521 
Hypsarrhythmia
HP:0005390 
Recurrent opportunistic infections
HP:0002716 
Lymphadenopathy
HP:0005379 
obsolete Severe T lymphocytopenia
HP:0004432 
Agammaglobulinemia
HP:0006695 
Atrioventricular canal defect
HP:0001733 
Pancreatitis
HP:0002350 
Cerebellar cyst
HP:0012110 
Hypoplasia of the pons
HP:0001948 
Alkalosis
HP:0003113 
Hypochloremia
HP:0003155 
Elevated alkaline phosphatase
HP:0003542 
Increased serum pyruvate
HP:0000421 
Epistaxis
HP:0200136 
Oral-pharyngeal dysphagia
HP:0000805 
Enuresis
HP:0005616 
Accelerated skeletal maturation
HP:0002459 
obsolete Dysautonomia
HP:0007302 
Bipolar affective disorder
HP:0100602 
Preeclampsia
HP:0100508 
Abnormality of vitamin metabolism
HP:0001140 
Limbal dermoid
HP:0000143 
Rectovaginal fistula
HP:0001746 
Asplenia
HP:0012715 
Profound hearing impairment
HP:0001748 
Polysplenia
HP:0003072 
Hypercalcemia
HP:0002905 
Hyperphosphatemia
HP:0002901 
Hypocalcemia
HP:0001367 
Abnormal joint morphology
HP:0010562 
Keloids
HP:0004430 
Severe combined immunodeficiency
HP:0000003 
Multicystic kidney dysplasia
HP:0010980 
Hyperlipoproteinemia
HP:0002155 
Hypertriglyceridemia
HP:0000520 
Proptosis
HP:0000180 
Lobulated tongue
HP:0005486 
Small fontanelle
HP:0000891 
Cervical ribs
HP:0002557 
Hypoplastic nipples
HP:0009112 
Aplasia of the left hemidiaphragm
HP:0001719 
Double outlet right ventricle
HP:0001682 
Subvalvular aortic stenosis
HP:0001667 
Right ventricular hypertrophy
HP:0002101 
Abnormal lung lobation
HP:0002202 
Pleural effusion
HP:0002566 
Intestinal malrotation
HP:0004510 
Pancreatic islet-cell hyperplasia
HP:0001747 
Accessory spleen
HP:0002181 
Cerebral edema
HP:0000967 
Petechiae
HP:0009702 
Carpal synostosis
HP:0000927 
Abnormality of skeletal maturation
HP:0004348 
Abnormality of bone mineral density
HP:0003019 
Abnormality of the wrist
HP:0003063 
Abnormality of the humerus
HP:0001059 
Pterygium
HP:0001528 
Hemihypertrophy
HP:0011228 
Horizontal eyebrow
HP:0000766 
Abnormality of the sternum
HP:0001254 
Lethargy
HP:0002360 
Sleep disturbance
HP:0001063 
Acrocyanosis
HP:0001769 
Broad foot
HP:0010280 
Stomatitis
HP:0001288 
Gait disturbance
HP:0008330 
Reduced von Willebrand factor activity
HP:0001954 
Recurrent fever
HP:0004311 
Abnormal macrophage morphology
HP:0012539 
Non-Hodgkin lymphoma
HP:0002074 
Increased neuronal autofluorescent lipopigment
HP:0002973 
Abnormality of the forearm
HP:0003203 
Impaired oxidative burst
HP:0003027 
Mesomelia
HP:0002754 
Osteomyelitis
HP:0004431 
Complement deficiency
HP:0001258 
Spastic paraplegia
HP:0012811 
Wide nasal ridge
HP:0011832 
Narrow nasal tip
HP:0000288 
Abnormality of the philtrum
HP:0002357 
Dysphasia
HP:0000871 
Panhypopituitarism
HP:0000233 
Thin vermilion border
HP:0003281 
Increased serum ferritin
HP:0010752 
Cleft mandible
HP:0000437 
Depressed nasal tip
HP:0000453 
Choanal atresia
HP:0000863 
Central diabetes insipidus
HP:0000058 
Abnormality of the labia
HP:0007418 
Alopecia totalis
HP:0100765 
Abnormality of the tonsils
HP:0100747 
Macrodactyly of toe
HP:0002109 
obsolete Abnormality of the bronchi
HP:0011950 
Bronchiolitis
HP:0002850 
Decreased circulating total IgM
HP:0001395 
Hepatic fibrosis
HP:0010701 
Abnormal immunoglobulin level
HP:0009928 
Thick nasal alae
HP:0010807 
Open bite
HP:0002126 
Polymicrogyria
HP:0002900 
Hypokalemia
HP:0000155 
Oral ulcer
HP:0000135 
Hypogonadism
HP:0100783 
Breast aplasia
HP:0000336 
Prominent supraorbital ridges
HP:0010557 
Overlapping fingers
HP:0005100 
Premature birth following premature rupture of fetal membranes
HP:0002594 
Pancreatic hypoplasia
HP:0010109 
Short hallux
HP:0002334 
Abnormality of the cerebellar vermis
HP:0003326 
Myalgia
HP:0001645 
Sudden cardiac death
HP:0001612 
Weak cry
HP:0001618 
Dysphonia
HP:0001336 
Myoclonus
HP:0001283 
Bulbar palsy
HP:0002080 
Intention tremor
HP:0002174 
Postural tremor
HP:0002064 
Spastic gait
HP:0009800 
Maternal diabetes
HP:0001662 
Bradycardia
HP:0006595 
Scapulohumeral synostosis
HP:0005815 
Supernumerary ribs
HP:0000307 
Pointed chin
HP:0012371 
Hyperplasia of midface
HP:0002643 
Neonatal respiratory distress
HP:0002093 
Respiratory insufficiency
HP:0010310 
Chylothorax
HP:0006376 
Limited elbow flexion
HP:0006467 
Limited shoulder movement
HP:0010505 
Limitation of movement at ankles
HP:0010501 
Limitation of knee mobility
HP:0009896 
Abnormality of the antitragus
HP:0004404 
Abnormal nipple morphology
HP:0011957 
Abnormal pectoral muscle morphology
HP:0000777 
Abnormality of the thymus
HP:0000418 
Narrow nasal ridge
HP:0001572 
Macrodontia
HP:0002967 
Cubitus valgus
HP:0000988 
Skin rash
HP:0009733 
Glioma
HP:0012452 
Restless legs
HP:0100031 
Neoplasm of the thyroid gland
HP:0030127 
Endometriosis
HP:0000123 
Nephritis
HP:0001974 
Leukocytosis
HP:0010976 
B lymphocytopenia
HP:0000010 
Recurrent urinary tract infections
HP:0100807 
Long fingers
HP:0000653 
Sparse eyelashes
HP:0000171 
Microglossia
HP:0002575 
Tracheoesophageal fistula
HP:0009933 
Narrow naris
HP:0000883 
Thin ribs
HP:0000121 
Nephrocalcinosis
HP:0001349 
Facial diplegia
HP:0012037 
Pectoralis amyotrophy
HP:0100560 
Upper limb asymmetry
HP:0005684 
Distal arthrogryposis
HP:0010722 
Asymmetry of the ears
HP:0009380 
Aplasia of the fingers
HP:0001657 
Prolonged QT interval
HP:0002040 
Esophageal varix
HP:0000613 
Photophobia
HP:0000561 
Absent eyelashes
HP:0002223 
Absent eyebrow
HP:0002591 
Polyphagia
HP:0002373 
Febrile seizure (within the age range of 3 months to 6 years)
HP:0002419 
Molar tooth sign on MRI
HP:0001010 
Hypopigmentation of the skin
HP:0005772 
Aplasia/Hypoplasia of the tibia
HP:0002211 
White forelock
HP:0007126 
Proximal amyotrophy
HP:0003798 
Nemaline bodies
HP:0006533 
Bronchodysplasia
HP:0003391 
Gowers sign
HP:0000771 
Gynecomastia
HP:0100785 
Insomnia
HP:0010529 
Echolalia
HP:0000363 
Abnormality of earlobe
HP:0002612 
Congenital hepatic fibrosis
HP:0006721 
Acute lymphoblastic leukemia
HP:0001958 
Nonketotic hypoglycemia
HP:0003457 
EMG abnormality
HP:0010636 
Schizencephaly
HP:0005266 
Intestinal polyp
HP:0200063 
Colorectal polyposis
HP:0001762 
Talipes equinovarus
HP:0000056 
Abnormality of the clitoris
HP:0008655 
Aplasia/Hypoplasia of the fallopian tube
HP:0002072 
Chorea
HP:0008734 
Decreased testicular size
HP:0002136 
Broad-based gait
HP:0010958 
Bilateral renal agenesis
HP:0002510 
Spastic tetraplegia
HP:0003234 
Decreased plasma carnitine
HP:0000720 
Mood swings
HP:0012638 
Abnormal nervous system physiology
HP:0002803 
Congenital contracture
HP:0000152 
Abnormality of head or neck
HP:0004377 
Hematological neoplasm
HP:0100006 
Neoplasm of the central nervous system
HP:0012759 
Neurodevelopmental abnormality
HP:0011805 
Abnormal skeletal muscle morphology
HP:0003634 
Amyoplasia
HP:0001507 
Growth abnormality
HP:0001939 
Abnormality of metabolism/homeostasis
HP:0011013 
Abnormal circulating carbohydrate concentration
HP:0410008 
Abnormality of the peripheral nervous system
HP:0200134 
Epileptic encephalopathy
HP:0001881 
Abnormal leukocyte morphology
HP:0005549 
obsolete Congenital neutropenia
HP:0004439 
Craniofacial dysostosis
HP:0012443 
Abnormality of brain morphology
HP:0000202 
Oral cleft
HP:0011842 
Abnormality of skeletal morphology
HP:0003808 
Abnormal muscle tone
HP:0001574 
Abnormality of the integument
HP:0030056 
Uncombable hair
HP:0003549 
Abnormality of connective tissue
HP:0030875 
Abnormality of pulmonary circulation
HP:0000118 
Phenotypic abnormality
HP:0012469 
Infantile spasms
HP:0032894 
Seizure precipitated by febrile infection
HP:0100661 
Trigeminal neuralgia
HP:0012207 
Reduced sperm motility
HP:0000798 
Oligospermia
HP:0012864 
Abnormal sperm morphology
HP:0008232 
Elevated circulating follicle stimulating hormone level
HP:0040306 
Decreased male libido
HP:0012208 
Immotile sperm
HP:0000027 
Azoospermia
HP:0000870 
Increased circulating prolactin concentration
HP:0008187 
Absence of secondary sex characteristics
HP:0010469 
Absent testis
HP:0011969 
Elevated circulating luteinizing hormone level
HP:0040171 
Decreased serum testosterone level
HP:0003251 
Male infertility
HP:0009804 
Reduced number of teeth
HP:0000548 
Cone/cone-rod dystrophy
HP:0000546 
Retinal degeneration
HP:0008002 
Abnormality of macular pigmentation
HP:0000608 
Macular degeneration
HP:0030611 
Retinal pigment epithelial loss on macular OCT
HP:0001135 
Chorioretinal dystrophy
HP:0030468 
Abnormal multifocal electroretinogram
HP:00030532 
Visual acuity test abnormality
HP:0007401 
Macular atrophy
HP:0030466 
Abnormal full-field electroretinogram
HP:007737 
Bone spicule pigmentation of the retina
HP:0011342 
Mild global developmental delay
HP:0030610 
Photoreceptor outer segment loss on macular OCT
HP:0007722 
Retinal pigment epithelial atrophy
HP:0030493 
Abnormality of foveal pigmentation
HP:0007843 
Attenuation of retinal blood vessels
HP:0007754 
Macular dystrophy
HP:0011509 
Macular hyperpigmentation
HP:0008527 
Congenital sensorineural hearing impairment
HP:0200070 
Peripheral retinal atrophy
HP:0007793 
Granular macular appearance
HP:0007987 
Progressive visual field defects
HP:0100817 
Renovascular hypertension
HP:0007868 
obsolete Age-related macular degeneration
HP:0030527 
Very severe constriction of peripheral visual field
HP:0030551 
Visual acuity light perception with projection
HP:0011505 
Cystoid macular edema
HP:0010442 
Polydactyly
HP:0007642 
Congenital stationary night blindness
HP:0009073 
Progressive proximal muscle weakness
HP:0003741 
Congenital muscular dystrophy
HP:0100299 
Muscle fiber inclusion bodies
HP:0003540 
Impaired platelet aggregation
HP:0010489 
Absent palmar crease
HP:0009824 
Upper limb undergrowth
HP:0002395 
Lower limb hyperreflexia
HP:0001138 
Optic neuropathy
HP:0007103 
Hypointensity of cerebral white matter on MRI
HP:0003458 
EMG: myopathic abnormalities
HP:0002987 
Elbow flexion contracture
HP:0006466 
Ankle flexion contracture
HP:0008458 
Progressive congenital scoliosis
HP:0000473 
Torticollis
HP:0011800 
Midface retrusion
HP:0000597 
Ophthalmoparesis
HP:0005853 
Congenital foot contraction deformities
HP:0007002 
Motor axonal neuropathy
HP:0003327 
Axial muscle weakness
HP:0003306 
Spinal rigidity
HP:0002068 
Neuromuscular dysphagia
HP:0001002 
obsolete Decreased subcutaneous fat
HP:0002880 
obsolete Respiratory difficulties
HP:0006829 
Severe muscular hypotonia
HP:0011448 
Ankle clonus
HP:0003487 
Babinski sign
HP:0002378 
Hand tremor
HP:0002747 
Respiratory insufficiency due to muscle weakness
HP:0002579 
Gastrointestinal dysmotility
HP:0001041 
Facial erythema
HP:0040180 
Hyperkeratosis pilaris
HP:0001382 
Joint hypermobility
HP:0003722 
Neck flexor weakness
HP:0003323 
Progressive muscle weakness
HP:0002380 
Fasciculations
HP:0012785 
Flexion contracture of finger
HP:0007936 
Restrictive external ophthalmoplegia
HP:0030319 
Weakness of facial musculature
HP:0008936 
Muscular hypotonia of the trunk
HP:0030230 
Central core regions in muscle fibers
HP:0011471 
Gastrostomy tube feeding in infancy
HP:0001290 
Generalized hypotonia
HP:0002421 
Poor head control
HP:0010301 
Spinal dysraphism
HP:0004303 
Abnormal muscle fiber morphology
HP:0009046 
Difficulty running
HP:0003715 
Myofibrillar myopathy
HP:0000467 
Neck muscle weakness
HP:0001999 
Abnormal facial shape
HP:0002751 
Kyphoscoliosis
HP:0030223 
Perseveration
HP:0002344 
Progressive neurologic deterioration
HP:0002522 
Areflexia of lower limbs
HP:0003805 
Rimmed vacuoles
HP:0005781 
Contractures of the large joints
HP:0040083 
Toe walking
HP:0003749 
Pelvic girdle muscle weakness
HP:0012444 
Brain atrophy
HP:0003738 
Exercise-induced myalgia
HP:0003756 
Skeletal myopathy
HP:0002492 
Morphological abnormality of the corticospinal tract
HP:0100302 
Muscle fiber tubuloreticular inclusions
HP:0006817 
Aplasia/Hypoplasia of the cerebellar vermis
HP:0003473 
Fatigable weakness
HP:0002077 
Migraine with aura
HP:0100559 
Lower limb asymmetry
HP:0002079 
Hypoplasia of the corpus callosum
HP:0002804 
Arthrogryposis multiplex congenita
HP:0011623 
Muscular ventricular septal defect
HP:0002191 
Progressive spasticity
HP:0003390 
Sensory axonal neuropathy
HP:0006986 
Upper limb spasticity
HP:0002464 
Spastic dysarthria
HP:0001308 
Tongue fasciculations
HP:0007010 
Poor fine motor coordination
HP:0003737 
Mitochondrial myopathy
HP:0008012 
obsolete Congenital myopia
HP:0008872 
Feeding difficulties in infancy
HP:0005750 
Contractures of the joints of the lower limbs
HP:0009067 
Progressive spinal muscular atrophy
HP:0001623 
Breech presentation
HP:0001374 
Congenital hip dislocation
HP:0002359 
Frequent falls
HP:0003803 
Type 1 muscle fiber predominance
HP:0011410 
Caesarian section
HP:0008947 
Infantile muscular hypotonia
HP:0100501 
Recurrent bronchiolitis
HP:0003789 
Minicore myopathy
HP:0000544 
External ophthalmoplegia
HP:0001605 
Vocal cord paralysis
HP:0003712 
Skeletal muscle hypertrophy
HP:0012507 
Weakness of orbicularis oculi muscle
HP:0009816 
Lower limb undergrowth
HP:0008935 
Generalized neonatal hypotonia
HP:0003484 
Upper limb muscle weakness
HP:0008331 
Elevated creatine kinase after exercise
HP:0001315 
Reduced tendon reflexes
HP:0012473 
Tongue atrophy
HP:0003273 
Hip contracture
HP:0006380 
Knee flexion contracture
HP:0003752 
Episodic flaccid weakness
HP:0100298 
Motheaten muscle fibers
HP:0003693 
Distal amyotrophy
HP:0002167 
Neurological speech impairment
HP:0003388 
Easy fatigability
HP:0001348 
Brisk reflexes
HP:0003445 
EMG: neuropathic changes
HP:0009063 
Progressive distal muscle weakness
HP:0003720 
Generalized muscle hypertrophy
HP:0002493 
Upper motor neuron dysfunction
HP:0012448 
Delayed myelination
HP:0001338 
Partial agenesis of the corpus callosum
HP:0006879 
Pontocerebellar atrophy
HP:0200101 
Decreased/absent ankle reflexes
HP:0009020 
Exercise-induced muscle fatigue
HP:0002067 
Bradykinesia
HP:0012751 
Abnormal basal ganglia MRI signal intensity
HP:0003355 
Aminoaciduria
HP:0012450 
Chronic constipation
HP:0011834 
Moyamoya phenomenon
HP:0001297 
Stroke
HP:0200049 
Upper limb hypertonia
HP:0008981 
Calf muscle hypertrophy
HP:0006785 
Limb-girdle muscular dystrophy
HP:0006957 
Loss of ability to walk
HP:0030098 
Reduced muscle dystrophin expression
HP:0030115 
Reduced muscle fiber dysferlin
HP:0002058 
Myopathic facies
HP:0007858 
Chorioretinal lacunae
HP:0006657 
Hypoplasia of first ribs
HP:0007165 
Periventricular heterotopia
HP:0009779 
3-4 toe syndactyly
HP:0010665 
Bilateral coxa valga
HP:0007598 
Bilateral single transverse palmar creases
HP:0006101 
Finger syndactyly
HP:0010511 
Long toe
HP:0002370 
Poor coordination
HP:0000480 
Retinal coloboma
HP:0001770 
Toe syndactyly
HP:0010851 
EEG with burst suppression
HP:0002791 
Hypoventilation
HP:0040075 
Hypopituitarism
HP:0012506 
Small pituitary gland
HP:0000538 
Pseudopapilledema
HP:0012717 
Severe conductive hearing impairment
HP:0001370 
Rheumatoid arthritis
HP:0000016 
Urinary retention
HP:0012537 
Food intolerance
HP:0011297 
Abnormal digit morphology
HP:0001273 
Abnormal corpus callosum morphology
HP:0030148 
Heart murmur
HP:0045018 
Partial duplication of eyebrows
HP:0008998 
Pectoralis hypoplasia
HP:0001707 
Abnormal right ventricle morphology
HP:0001540 
Diastasis recti
HP:0100693 
Iridodonesis
HP:0002265 
Large fleshy ears
HP:0001132 
Lens subluxation
HP:0004927 
Pulmonary artery dilatation
HP:0005619 
Thoracolumbar kyphosis
HP:0008619 
Bilateral sensorineural hearing impairment
HP:0001045 
Vitiligo
HP:0009124 
Abnormal adipose tissue morphology
HP:0002979 
Bowing of the legs
HP:0000455 
Broad nasal tip
HP:0001007 
Hirsutism
HP:0010314 
Premature thelarche
HP:0000075 
Renal duplication
HP:0000368 
Low-set, posteriorly rotated ears
HP:0001052 
Nevus flammeus
HP:0200048 
Cyanotic episode
HP:0001902 
Giant platelets
HP:0030043 
Hip subluxation
HP:0002938 
Lumbar hyperlordosis
HP:0030084 
Clinodactyly
HP:0005560 
Imbalanced hemoglobin synthesis
HP:0001539 
Omphalocele
HP:0009778 
Short thumb
HP:0002277 
Horner syndrome
HP:0011701 
Multifocal atrial tachycardia
HP:0005274 
Prominent nasal tip
HP:0001262 
Excessive daytime somnolence
HP:0001285 
Spastic tetraparesis
HP:0012171 
Stereotypical hand wringing
HP:0002518 
Abnormality of the periventricular white matter
HP:0005692 
Joint hyperflexibility
HP:0007440 
Generalized hyperpigmentation
HP:0001805 
Onychogryposis
HP:0011945 
Bronchiolitis obliterans organizing pneumonia
HP:0003763 
Bruxism
HP:0010500 
Hyperextensibility of the knee
HP:0040115 
Abnormality of the Eustachian tube
HP:0008751 
Laryngeal cleft
HP:0000403 
Recurrent otitis media
HP:0001787 
Abnormal delivery
HP:0002571 
Achalasia
HP:0002615 
Hypotension
HP:0003550 
Predominantly lower limb lymphedema
HP:0030363 
Primary Caesarian section
HP:0001727 
Thromboembolic stroke
HP:0100603 
Toxemia of pregnancy
HP:0010836 
Abnormal circulating copper concentration
HP:0000356 
Abnormality of the outer ear
HP:0002197 
Generalized-onset seizure
HP:0011436 
Abnormal maternal serum screening
HP:0003517 
Birth length greater than 97th percentile
HP:0003561 
Birth length less than 3rd percentile
HP:0012188 
Hyperemesis gravidarum
HP:0010519 
Increased fetal movement
HP:0030244 
Maternal fever in pregnancy
HP:0008071 
Maternal hypertension
HP:0100622 
Maternal seizure
HP:0011438 
Maternal teratogenic exposure
HP:0001998 
Neonatal hypoglycemia
HP:0040187 
Neonatal sepsis
HP:0002033 
Poor suck
HP:0006579 
Prolonged neonatal jaundice
HP:0001724 
obsolete Aortic dilatation
HP:0010621 
Cutaneous syndactyly of toes
HP:0001880 
Eosinophilia
HP:0000162 
Glossoptosis
HP:0100578 
Lipoatrophy
HP:0002562 
Low-set nipples
HP:0012893 
Neck muscle hypertrophy
HP:0001027 
Soft, doughy skin
HP:0100738 
Abnormal eating behavior
HP:0007328 
Impaired pain sensation
HP:0002878 
Respiratory failure
HP:0001776 
Bilateral talipes equinovarus
HP:0001360 
Holoprosencephaly
HP:0001973 
Autoimmune thrombocytopenia
HP:0100749 
Chest pain
HP:0012531 
Pain
HP:0007585 
Skin fragility with non-scarring blistering
HP:0002108 
Spontaneous pneumothorax
HP:0006562 
Viral hepatitis
HP:0012647 
Abnormal inflammatory response
HP:0012088 
Abnormal urinary odor
HP:0011458 
Abdominal symptom
HP:0002829 
Arthralgia
HP:0010783 
Erythema
HP:0010307 
Stridor
HP:0001269 
Hemiparesis
HP:0006532 
Recurrent pneumonia
HP:0002580 
Volvulus
HP:0012387 
Bronchitis
HP:0001266 
Choreoathetosis
HP:0001531 
Failure to thrive in infancy
HP:0011470 
Nasogastric tube feeding in infancy
HP:0001361 
Nystagmus-induced head nodding
HP:0001997 
Gout
HP:0000965 
Cutis marmorata
HP:0010316 
Ebstein anomaly of the tricuspid valve
HP:0010543 
Opsoclonus
HP:0007704 
Paroxysmal involuntary eye movements
HP:0030364 
Secondary Caesarian section
HP:0007738 
Uncontrolled eye movements
HP:0030366 
Delivery by Odon device
HP:0011411 
Forceps delivery
HP:0030369 
Induced vaginal delivery
HP:0005268 
Spontaneous abortion
HP:0030365 
Vaginal birth after Caesarian
HP:0011412 
Ventouse delivery
HP:0002572 
Episodic vomiting
HP:0030350 
Erythematous papule
HP:0001386 
Joint swelling
HP:0000147 
Polycystic ovaries
HP:0012412 
Premature adrenarche
HP:0004411 
Deviated nasal septum
HP:0040183 
Encopresis
HP:0100507 
Reduced blood folate concentration
HP:0007011 
Fourth cranial nerve palsy
HP:0000375 
Abnormal cochlea morphology
HP:0009911 
Abnormal temporal bone morphology
HP:0000081 
Duplicated collecting system
HP:0006894 
Hypoplastic olfactory lobes
HP:0011380 
Morphological abnormality of the semicircular canal
HP:0000110 
Renal dysplasia
HP:0030025 
Auricular pit
HP:0010044 
Short 4th metacarpal
HP:0010047 
Short 5th metacarpal
HP:0000201 
Pierre-Robin sequence
HP:0100837 
Atrophodermia vermiculata
HP:0002673 
Coxa valga
HP:0001476 
Delayed closure of the anterior fontanelle
HP:0011069 
Increased number of teeth
HP:0009879 
Simplified gyral pattern
HP:0006315 
Single median maxillary incisor
HP:0001194 
Abnormalities of placenta or umbilical cord
HP:0100767 
Abnormal placenta morphology
HP:0006543 
Cardiorespiratory arrest
HP:0003074 
Hyperglycemia
HP:0000842 
Hyperinsulinemia
HP:0011951 
Aspiration pneumonia
HP:0006528 
Chronic lung disease
HP:0002383 
Encephalitis
HP:0000388 
Otitis media
HP:0002530 
Axial dystonia
HP:0002780 
Bronchomalacia
HP:0008755 
Laryngotracheomalacia
HP:0000308 
Microretrognathia
HP:0002786 
Tracheobronchomalacia
HP:0012389 
Appendicular hypotonia
HP:0011323 
Cleft of chin
HP:0000417 
Slender nose
HP:0001863 
Toe clinodactyly
HP:0008386 
Aplasia/Hypoplasia of the nails
HP:0006989 
Dysplastic corpus callosum
HP:0100954 
Open operculum
HP:0004482 
Relative macrocephaly
HP:3000033 
Abnormal nasopharyngeal adenoid morphology
HP:0009062 
Infantile axial hypotonia
HP:0002189 
obsolete Excessive daytime sleepiness
HP:0002141 
Gait imbalance
HP:0012734 
Ketotic hypoglycemia
HP:0005968 
Temperature instability
HP:0012538 
Gluten intolerance
HP:0000979 
Purpura
HP:0001988 
Recurrent hypoglycemia
HP:0001488 
Bilateral ptosis
HP:0011229 
Broad eyebrow
HP:0004440 
Coronal craniosynostosis
HP:0004453 
Overfolding of the superior helices
HP:0012547 
Abnormal involuntary eye movements
HP:0100814 
Blue nevus
HP:0010751 
Dimple chin
HP:0007087 
obsolete Involuntary jerking movements
HP:0012498 
Nuchal cord
HP:0002472 
Small cerebral cortex
HP:0100307 
Cerebellar hemisphere hypoplasia
HP:0002151 
Increased serum lactate
HP:0001698 
Pericardial effusion
HP:0006903 
Congenital peripheral neuropathy
HP:0006895 
Lower limb hypertonia
HP:0002744 
Bilateral cleft lip and palate
HP:0010664 
Fusion of the left and right thalami
HP:0000327 
Hypoplasia of the maxilla
HP:0000474 
Thickened nuchal skin fold
HP:0000105 
Enlarged kidney
HP:0000113 
Polycystic kidney dysplasia
HP:0000104 
Renal agenesis
HP:0001362 
Calvarial skull defect
HP:0008245 
Pituitary hypothyroidism
HP:0001552 
Barrel-shaped chest
HP:0006297 
Hypoplasia of dental enamel
HP:0100023 
Recurrent hand flapping
HP:0005518 
Increased mean corpuscular volume
HP:0012418 
Hypoxemia
HP:0100259 
Postaxial polydactyly
HP:0010814 
Abnormal position of hair whorl
HP:0003764 
Nevus
HP:0000445 
Wide nose
HP:0010677 
Enuresis nocturna
HP:0001510 
Growth delay
HP:0012428 
Prominent calcaneus
HP:0012471 
Thick vermilion border
HP:0007110 
Central hypoventilation
HP:0010614 
Fibroma
HP:0001034 
Hypermelanotic macule
HP:0011365 
Patchy hypopigmentation of hair
HP:0001920 
Renal artery stenosis
HP:0002828 
Multiple joint contractures
HP:0002144 
Tethered cord
HP:0010964 
Abnormal circulating long-chain fatty-acid concentration
HP:0010536 
Central sleep apnea
HP:0011262 
Crimped helix
HP:0040079 
Irregular dentition
HP:0011481 
Abnormal lacrimal duct morphology
HP:0000220 
Velopharyngeal insufficiency
HP:0002153 
Hyperkalemia
HP:0002148 
Hypophosphatemia
HP:0012621 
Persistent cloaca
HP:0000867 
Secondary hyperparathyroidism
HP:0003762 
Uterus didelphys
HP:0100512 
Low levels of vitamin D
HP:0012156 
Hemophagocytosis
HP:0008209 
Premature ovarian insufficiency
HP:0004349 
Reduced bone mineral density
HP:0001924 
Sideroblastic anemia
HP:0011703 
Sinus tachycardia
HP:0010609 
Skin tags
HP:0002725 
Systemic lupus erythematosus
HP:0003193 
Allergic rhinitis
HP:0006896 
Hypnopompic hallucinations
HP:0002524 
Cataplexy
HP:0005227 
Adenomatous colonic polyposis
HP:0012173 
Orthostatic tachycardia
HP:0001271 
Polyneuropathy
HP:0009120 
Aplasia/Hypoplasia involving the sinuses
HP:0000625 
Eyelid coloboma
HP:0009754 
Fibrous syngnathia
HP:0012478 
Temporomandibular joint ankylosis
HP:0001233 
2-3 finger syndactyly
HP:0000811 
Abnormal external genitalia
HP:0005120 
Abnormal cardiac atrium morphology
HP:0008388 
Abnormal toenail morphology
HP:0011467 
Absent gallbladder
HP:0010760 
Absent toe
HP:0001545 
Anteriorly placed anus
HP:0001640 
Cardiomegaly
HP:0002990 
Fibular aplasia
HP:0004443 
Lambdoidal craniosynostosis
HP:0008569 
Microtia, second degree
HP:0006277 
Pancreatic hyperplasia
HP:0010445 
Primum atrial septal defect
HP:0011640 
Single coronary artery origin
HP:0011608 
Type II truncus arteriosus
HP:0011327 
Posterior plagiocephaly
HP:0007655 
Eversion of lateral third of lower eyelids
HP:0010747 
Medial flaring of the eyebrow
HP:0005957 
Breathing dysregulation
HP:0000992 
Cutaneous photosensitivity
HP:0011995 
Atrial septal dilatation
HP:0000377 
Abnormality of the pinna
HP:0011266 
Microtia, first degree
HP:0012650 
Perisylvian polymicrogyria
HP:0004970 
Ascending tubular aorta aneurysm
HP:0008348 
Decreased circulating IgG2 level
HP:0012115 
Hepatitis
HP:0006979 
Sleep-wake cycle disturbance
HP:0008587 
Mild neurosensory hearing impairment
HP:0006097 
3-4 finger syndactyly
HP:0005263 
Gastritis
HP:0200043 
Verrucae
HP:0009600 
Flexion contracture of thumb
HP:0010818 
Generalized tonic seizure
HP:0002599 
Head titubation
HP:0002090 
Pneumonia
HP:0030423 
Splenic cyst
HP:0030187 
Titubation
HP:0002375 
Hypokinesia
HP:0007166 
Paroxysmal dyskinesia
HP:0003077 
Hyperlipidemia
HP:0000017 
Nocturia
HP:0100555 
Asymmetric growth
HP:0011847 
Giant cell tumor of bone
HP:0000112 
Nephropathy
HP:0000246 
Sinusitis
HP:0001012 
Multiple lipomas
HP:0000851 
Congenital hypothyroidism
HP:0002345 
Action tremor
HP:0002677 
Small foramen magnum
HP:0011947 
Respiratory tract infection
HP:0012151 
Hemothorax
HP:0005988 
Congenital muscular torticollis
HP:0002329 
Drowsiness
HP:0012395 
Seasonal allergy
HP:0011679 
Tetralogy of Fallot with pulmonary stenosis
HP:0001864 
Clinodactyly of the 5th toe
HP:0006934 
Congenital nystagmus
HP:0100355 
Contractures of the distal interphalangeal joint of the 5th toe
HP:0007894 
Hypopigmentation of the fundus
HP:0012377 
Hemianopia
HP:0002354 
Memory impairment
HP:0000872 
Hashimoto thyroiditis
HP:0002519 
Hypnagogic hallucinations
HP:0010647 
Abnormal elasticity of skin
HP:0002592 
Gastric ulcer
HP:0004938 
Tortuous cerebral arteries
HP:0004948 
Vascular tortuosity
HP:0002516 
Increased intracranial pressure
HP:0006460 
Increased laxity of ankles
HP:0002317 
Unsteady gait
HP:0000182 
Movement abnormality of the tongue
HP:0009887 
Abnormality of hair pigmentation
HP:0005824 
Clinodactyly of the 2nd toe
HP:0002212 
Curly hair
HP:0009803 
Short phalanx of finger
HP:0000572 
Visual loss
HP:0005216 
Impaired mastication
HP:0000619 
Impaired convergence
HP:0002403 
Positive Romberg sign
HP:0008744 
Abnormal aryepiglottic fold morphology
HP:0002374 
Diminished movement
HP:0008277 
Abnormal blood zinc concentration
HP:0012781 
Mid-frequency hearing loss
HP:0100758 
Gangrene
HP:0003256 
Abnormality of the coagulation cascade
HP:0004387 
Enterocolitis
HP:0011029 
Internal hemorrhage
HP:0011649 
Patent ductus arteriosus after premature birth
HP:0012050 
Anasarca
HP:0001683 
Ectopia cordis
HP:0011682 
Perimembranous ventricular septal defect
HP:0010624 
Aplastic/hypoplastic toenail
HP:0002705 
High, narrow palate
HP:0011340 
Incomplete cleft of the upper lip
HP:0011613 
Interrupted aortic arch type B
HP:0006167 
Prominent proximal interphalangeal joints
HP:0002918 
Hypermagnesemia
HP:0011937 
Hypoplastic fifth toenail
HP:0001067 
Neurofibromas
HP:0011403 
Abnormal umbilical cord blood vessels
HP:0003316 
Butterfly vertebrae
HP:0002247 
Duodenal atresia
HP:0008439 
Lumbar hemivertebrae
HP:0011599 
Mesocardia
HP:0008467 
Thoracic hemivertebrae
HP:0004626 
Lumbar scoliosis
HP:0006808 
Cerebral hypomyelination
HP:0002926 
Abnormality of thyroid physiology
HP:0007970 
Congenital ptosis
HP:0030853 
Heterotaxy
HP:0010772 
Anomalous pulmonary venous return
"},"url":"http://purl.obolibrary.org/obo/hp.owl","version":"0.2.0","name":"HPO","title":"Human Phenotype Ontology","status":"draft","experimental":false,"date":"2023-08-08T19:23:30+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Please see license of HPO at http://www.human-phenotype-ontology.org","valueSet":"http://fhir.ncpi-project-forge.io/ValueSet/phenotype-codes","hierarchyMeaning":"is-a","compositional":false,"versionNeeded":false,"content":"fragment","count":1880,"filter":[{"code":"root","operator":["="],"value":"True or false."},{"code":"deprecated","operator":["="],"value":"True or false."},{"code":"imported","operator":["="],"value":"True or false"}],"property":[{"code":"parent","description":"Parent codes.","type":"code"},{"code":"imported","description":"Indicates if the concept is imported from another code system.","type":"boolean"},{"code":"root","description":"Indicates if this concept is a root concept (i.e. Thing is equivalent or a direct parent)","type":"boolean"},{"code":"deprecated","description":"Indicates if this concept is deprecated.","type":"boolean"}],"concept":[{"code":"HP:0000365","display":"Hearing impairment"},{"code":"HP:0002564","display":"obsolete Malformation of the heart and great vessels"},{"code":"HP:0001028","display":"Hemangioma"},{"code":"HP:0000476","display":"Cystic hygroma"},{"code":"HP:0000568","display":"Microphthalmia"},{"code":"HP:0000518","display":"Cataract"},{"code":"HP:0000612","display":"Iris coloboma"},{"code":"HP:0000567","display":"Chorioretinal coloboma"},{"code":"HP:0000316","display":"Hypertelorism"},{"code":"HP:0000482","display":"Microcornea"},{"code":"HP:0000588","display":"Optic nerve coloboma"},{"code":"HP:0004426","display":"Abnormality of the cheek"},{"code":"HP:0009125","display":"Lipodystrophy"},{"code":"HP:0002023","display":"Anal atresia"},{"code":"HP:0003468","display":"Abnormal vertebral morphology"},{"code":"HP:0000545","display":"Myopia"},{"code":"HP:0000122","display":"Unilateral renal agenesis"},{"code":"HP:0002143","display":"Abnormality of the spinal cord"},{"code":"HP:0003508","display":"Proportionate short stature"},{"code":"HP:0000271","display":"Abnormality of the face"},{"code":"HP:0000637","display":"Long palpebral fissure"},{"code":"HP:0000492","display":"Abnormal eyelid morphology"},{"code":"HP:0000389","display":"Chronic otitis media"},{"code":"HP:0000400","display":"Macrotia"},{"code":"HP:0000405","display":"Conductive hearing impairment"},{"code":"HP:0012712","display":"Mild hearing impairment"},{"code":"HP:0005280","display":"Depressed nasal bridge"},{"code":"HP:0000431","display":"Wide nasal bridge"},{"code":"HP:0000319","display":"Smooth philtrum"},{"code":"HP:0000175","display":"Cleft palate"},{"code":"HP:0001611","display":"Nasal speech"},{"code":"HP:0002099","display":"Asthma"},{"code":"HP:0001397","display":"Hepatic steatosis"},{"code":"HP:0001081","display":"Cholelithiasis"},{"code":"HP:0002650","display":"Scoliosis"},{"code":"HP:0001212","display":"Prominent fingertip pads"},{"code":"HP:0001328","display":"Specific learning disability"},{"code":"HP:0000824","display":"Growth hormone deficiency"},{"code":"HP:0002607","display":"Bowel incontinence"},{"code":"HP:0100731","display":"Transverse facial cleft"},{"code":"HP:0000528","display":"Anophthalmia"},{"code":"HP:0000601","display":"Hypotelorism"},{"code":"HP:0000369","display":"Low-set ears"},{"code":"HP:0001274","display":"Agenesis of corpus callosum"},{"code":"HP:0002084","display":"Encephalocele"},{"code":"HP:0007033","display":"Cerebellar dysplasia"},{"code":"HP:0100336","display":"Bilateral cleft lip"},{"code":"HP:0100337","display":"Bilateral cleft palate"},{"code":"HP:0001511","display":"Intrauterine growth retardation"},{"code":"HP:0011451","display":"Congenital microcephaly"},{"code":"HP:0000324","display":"Facial asymmetry"},{"code":"HP:0000581","display":"Blepharophimosis"},{"code":"HP:0000508","display":"Ptosis"},{"code":"HP:0008551","display":"Microtia"},{"code":"HP:0001631","display":"Atrial septal defect"},{"code":"HP:0000085","display":"Horseshoe kidney"},{"code":"HP:0011927","display":"Short digit"},{"code":"HP:0001156","display":"Brachydactyly"},{"code":"HP:0002066","display":"Gait ataxia"},{"code":"HP:0001250","display":"Seizure"},{"code":"HP:0001263","display":"Global developmental delay"},{"code":"HP:0001562","display":"Oligohydramnios"},{"code":"HP:0001195","display":"Single umbilical artery"},{"code":"HP:0006349","display":"Agenesis of permanent teeth"},{"code":"HP:0000668","display":"Hypodontia"},{"code":"HP:0000677","display":"Oligodontia"},{"code":"HP:0001252","display":"Muscular hypotonia"},{"code":"HP:0003429","display":"CNS hypomyelination"},{"code":"HP:0010864","display":"Intellectual disability, severe"},{"code":"HP:0004325","display":"Decreased body weight"},{"code":"HP:0000666","display":"Horizontal nystagmus"},{"code":"HP:0000218","display":"High palate"},{"code":"HP:0010809","display":"Broad uvula"},{"code":"HP:0000767","display":"Pectus excavatum"},{"code":"HP:0003691","display":"Scapular winging"},{"code":"HP:0002616","display":"Aortic root aneurysm"},{"code":"HP:0001601","display":"Laryngomalacia"},{"code":"HP:0002021","display":"Pyloric stenosis"},{"code":"HP:0001388","display":"Joint laxity"},{"code":"HP:0001187","display":"Hyperextensibility of the finger joints"},{"code":"HP:0000741","display":"Apathy"},{"code":"HP:0000817","display":"Poor eye contact"},{"code":"HP:0000821","display":"Hypothyroidism"},{"code":"HP:0000002","display":"Abnormality of body height"},{"code":"HP:0000079","display":"Abnormality of the urinary system"},{"code":"HP:0000164","display":"Abnormality of the dentition"},{"code":"HP:0000364","display":"Hearing abnormality"},{"code":"HP:0000366","display":"Abnormality of the nose"},{"code":"HP:0000464","display":"Abnormality of the neck"},{"code":"HP:0000707","display":"Abnormality of the nervous system"},{"code":"HP:0000708","display":"Behavioral abnormality"},{"code":"HP:0000769","display":"Abnormality of the breast"},{"code":"HP:0000772","display":"Abnormality of the ribs"},{"code":"HP:0000775","display":"Abnormality of the diaphragm"},{"code":"HP:0000889","display":"Abnormality of the clavicle"},{"code":"HP:0000925","display":"Abnormality of the vertebral column"},{"code":"HP:0001080","display":"Biliary tract abnormality"},{"code":"HP:0001392","display":"Abnormality of the liver"},{"code":"HP:0001438","display":"Abnormal abdomen morphology"},{"code":"HP:0001608","display":"Abnormality of the voice"},{"code":"HP:0001627","display":"Abnormal heart morphology"},{"code":"HP:0001732","display":"Abnormality of the pancreas"},{"code":"HP:0001739","display":"Abnormality of the nasopharynx"},{"code":"HP:0001743","display":"Abnormality of the spleen"},{"code":"HP:0001760","display":"Abnormal foot morphology"},{"code":"HP:0001871","display":"Abnormality of blood and blood-forming tissues"},{"code":"HP:0002031","display":"Abnormal esophagus morphology"},{"code":"HP:0002244","display":"Abnormality of the small intestine"},{"code":"HP:0002246","display":"Abnormality of the duodenum"},{"code":"HP:0002250","display":"Abnormal large intestine morphology"},{"code":"HP:0002644","display":"Abnormality of pelvic girdle bone morphology"},{"code":"HP:0002664","display":"Neoplasm"},{"code":"HP:0002715","display":"Abnormality of the immune system"},{"code":"HP:0002814","display":"Abnormality of the lower limb"},{"code":"HP:0002817","display":"Abnormality of the upper limb"},{"code":"HP:0005483","display":"Abnormal epiglottis morphology"},{"code":"HP:0008777","display":"Abnormal vocal cord morphology"},{"code":"HP:0011844","display":"Abnormal appendicular skeleton morphology"},{"code":"HP:0012732","display":"Anorectal anomaly"},{"code":"HP:0001508","display":"Failure to thrive"},{"code":"HP:0002902","display":"Hyponatremia"},{"code":"HP:0012236","display":"Elevated sweat chloride"},{"code":"HP:0000347","display":"Micrognathia"},{"code":"HP:0000926","display":"Platyspondyly"},{"code":"HP:0001371","display":"Flexion contracture"},{"code":"HP:0001875","display":"Neutropenia"},{"code":"HP:0001888","display":"Lymphopenia"},{"code":"HP:0002857","display":"Genu valgum"},{"code":"HP:0002986","display":"Radial bowing"},{"code":"HP:0003015","display":"Flared metaphysis"},{"code":"HP:0003025","display":"Metaphyseal irregularity"},{"code":"HP:0003097","display":"Short femur"},{"code":"HP:0003300","display":"Ovoid vertebral bodies"},{"code":"HP:0003307","display":"Hyperlordosis"},{"code":"HP:0004209","display":"Clinodactyly of the 5th finger"},{"code":"HP:0004322","display":"Short stature"},{"code":"HP:0005792","display":"Short humerus"},{"code":"HP:0006248","display":"Limited wrist movement"},{"code":"HP:0000944","display":"Abnormality of the metaphysis"},{"code":"HP:0011921","display":"Exudative pleural effusion"},{"code":"HP:0003043","display":"Abnormality of the shoulder"},{"code":"HP:0000290","display":"Abnormality of the forehead"},{"code":"HP:0005288","display":"Abnormality of the nares"},{"code":"HP:0000234","display":"Abnormality of the head"},{"code":"HP:0004323","display":"Abnormality of body weight"},{"code":"HP:0000483","display":"Astigmatism"},{"code":"HP:0011003","display":"High myopia"},{"code":"HP:0000470","display":"Short neck"},{"code":"HP:0030044","display":"Flexion contracture of digit"},{"code":"HP:0100871","display":"Abnormality of the palm"},{"code":"HP:0004334","display":"Dermal atrophy"},{"code":"HP:0001845","display":"Overlapping toe"},{"code":"HP:0000496","display":"Abnormality of eye movement"},{"code":"HP:0001780","display":"Abnormality of toe"},{"code":"HP:0001626","display":"Abnormality of the cardiovascular system"},{"code":"HP:0002086","display":"Abnormality of the respiratory system"},{"code":"HP:0000818","display":"Abnormality of the endocrine system"},{"code":"HP:0012372","display":"Abnormal eye morphology"},{"code":"HP:0009473","display":"Joint contracture of the hand"},{"code":"HP:0003199","display":"Decreased muscle mass"},{"code":"HP:0003202","display":"Skeletal muscle atrophy"},{"code":"HP:0003551","display":"Difficulty climbing stairs"},{"code":"HP:0002355","display":"Difficulty walking"},{"code":"HP:0003546","display":"Exercise intolerance"},{"code":"HP:0003325","display":"Limb-girdle muscle weakness"},{"code":"HP:0003701","display":"Proximal muscle weakness"},{"code":"HP:0003547","display":"Shoulder girdle muscle weakness"},{"code":"HP:0007340","display":"Lower limb muscle weakness"},{"code":"HP:0002168","display":"Scanning speech"},{"code":"HP:0001265","display":"Hyporeflexia"},{"code":"HP:0001284","display":"Areflexia"},{"code":"HP:0003477","display":"Peripheral axonal neuropathy"},{"code":"HP:0000924","display":"Abnormality of the skeletal system"},{"code":"HP:0001291","display":"Abnormal cranial nerve morphology"},{"code":"HP:0003687","display":"Centrally nucleated skeletal muscle fibers"},{"code":"HP:0001324","display":"Muscle weakness"},{"code":"HP:0002515","display":"Waddling gait"},{"code":"HP:0100280","display":"Crohn's disease"},{"code":"HP:0002631","display":"obsolete Dilatation of ascending aorta"},{"code":"HP:0100026","display":"Arteriovenous malformation"},{"code":"HP:0002637","display":"Cerebral ischemia"},{"code":"HP:0002619","display":"Varicose veins"},{"code":"HP:0001159","display":"Syndactyly"},{"code":"HP:0002069","display":"Bilateral tonic-clonic seizure"},{"code":"HP:0000977","display":"Soft skin"},{"code":"HP:0010648","display":"Dermal translucency"},{"code":"HP:0000978","display":"Bruising susceptibility"},{"code":"HP:0001956","display":"Truncal obesity"},{"code":"HP:0000189","display":"Narrow palate"},{"code":"HP:0000678","display":"Dental crowding"},{"code":"HP:0002870","display":"Obstructive sleep apnea"},{"code":"HP:0001763","display":"Pes planus"},{"code":"HP:0000782","display":"Abnormality of the scapula"},{"code":"HP:0001600","display":"Abnormality of the larynx"},{"code":"HP:0002088","display":"Abnormal lung morphology"},{"code":"HP:0011407","display":"Proportionate tall stature"},{"code":"HP:0000541","display":"Retinal detachment"},{"code":"HP:0001373","display":"Joint dislocation"},{"code":"HP:0000938","display":"Osteopenia"},{"code":"HP:0002942","display":"Thoracic kyphosis"},{"code":"HP:0001840","display":"Metatarsus adductus"},{"code":"HP:0001844","display":"Abnormality of the hallux"},{"code":"HP:0001765","display":"Hammertoe"},{"code":"HP:0000606","display":"Abnormality of the periorbital region"},{"code":"HP:0002757","display":"Recurrent fractures"},{"code":"HP:0000647","display":"Sclerocornea"},{"code":"HP:0001166","display":"Arachnodactyly"},{"code":"HP:0005490","display":"Postnatal macrocephaly"},{"code":"HP:0011363","display":"Abnormality of hair growth rate"},{"code":"HP:0000276","display":"Long face"},{"code":"HP:0000275","display":"Narrow face"},{"code":"HP:0000337","display":"Broad forehead"},{"code":"HP:0002267","display":"Exaggerated startle response"},{"code":"HP:0002187","display":"Intellectual disability, profound"},{"code":"HP:0000728","display":"Impaired ability to form peer relationships"},{"code":"HP:0000733","display":"Stereotypy"},{"code":"HP:0000739","display":"Anxiety"},{"code":"HP:0000929","display":"Abnormal skull morphology"},{"code":"HP:0001965","display":"Abnormal scalp morphology"},{"code":"HP:0100538","display":"Abnormality of the supraorbital ridges"},{"code":"HP:0000309","display":"Abnormality of the midface"},{"code":"HP:0000277","display":"Abnormality of the mandible"},{"code":"HP:0000765","display":"Abnormality of the thorax"},{"code":"HP:0100008","display":"Schwannoma"},{"code":"HP:0030038","display":"Enchondroma"},{"code":"HP:0100777","display":"Exostoses"},{"code":"HP:0011663","display":"Right ventricular 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"http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0010289","display" : "Cleft of alveolar ridge of maxilla"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0003908","display" : "Corner fracture of metaphysis"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0002190","display" : "Choroid plexus cyst"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0004370","display" : "Abnormality of temperature regulation"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0011611","display" : "Interrupted aortic arch"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0000737","display" : "Irritability"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0001344","display" : "Absent speech"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0002376","display" : "Developmental regression"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0002140","display" : "Ischemic stroke"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0001287","display" : "Meningitis"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0002721","display" : "Immunodeficiency"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0000041","display" : "Chordee"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0012854","display" : "Midshaft hypospadias"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0000808","display" : "Penoscrotal hypospadias"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0000048","display" : "Bifid scrotum"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0001047","display" : "Atopic dermatitis"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0001621","display" : "Weak voice"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0002372","display" : "Normal interictal EEG"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0012803","display" : "Anisometropia"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0011386","display" : "Narrow internal auditory canal"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0012714","display" : "Severe hearing impairment"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0006485","display" : "Agenesis of incisor"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0000787","display" : "Nephrolithiasis"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0011332","display" : "Hemifacial hypoplasia"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0001909","display" : "Leukemia"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0004808","display" : "Acute myeloid leukemia"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0006495","display" : "Aplasia/Hypoplasia of the ulna"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0001180","display" : "Hand oligodactyly"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0002991","display" : "Abnormality of fibula morphology"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0001849","display" : "Foot oligodactyly"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0006507","display" : "Aplasia/hypoplasia of the humerus"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0005613","display" : "Aplasia/hypoplasia of the femur"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0006492","display" : "Aplasia/Hypoplasia of the fibula"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0000098","display" : "Tall stature"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0003311","display" : "Hypoplasia of the odontoid process"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0005752","display" : "Flattened moderately deformed vertebrae"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0030039","display" : "Fused thoracic vertebrae"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0003304","display" : "Spondylolysis"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0001659","display" : "Aortic regurgitation"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0002984","display" : "Hypoplasia of the radius"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0009944","display" : "Partial duplication of thumb phalanx"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0005819","display" : "Short middle phalanx of finger"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0002110","display" : "Bronchiectasis"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0001677","display" : "Coronary artery atherosclerosis"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0001737","display" : "Pancreatic cysts"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0005113","display" : "Aortic arch aneurysm"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0003022","display" : "Hypoplasia of the ulna"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0002205","display" : "Recurrent respiratory infections"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0001669","display" : "Transposition of the great arteries"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0001716","display" : "Wolff-Parkinson-White syndrome"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0002758","display" : "Osteoarthritis"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0002037","display" : "Inflammation of the large intestine"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0009892","display" : "Anotia"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0011331","display" : "Hemifacial atrophy"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0009118","display" : "Aplasia/Hypoplasia of the mandible"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0009940","display" : "Asymmetry of the mandible"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0000682","display" : "Abnormality of dental enamel"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0009908","display" : "Anterior creases of earlobe"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0001541","display" : "Ascites"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0006687","display" : "Aortic tortuosity"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0010535","display" : "Sleep apnea"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0100633","display" : "Esophagitis"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0002105","display" : "Hemoptysis"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0002613","display" : "Biliary cirrhosis"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0004469","display" : "Chronic bronchitis"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0002720","display" : "Decreased circulating IgA level"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0002904","display" : "Hyperbilirubinemia"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0003237","display" : "Increased circulating IgG level"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0003262","display" : "Smooth muscle antibody positivity"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0011227","display" : "Elevated C-reactive protein level"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0001852","display" : "Sandal gap"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0004381","display" : "Supravalvular aortic stenosis"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0100700","display" : "Abnormal arachnoid mater morphology"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0002624","display" : "Abnormal venous morphology"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0002289","display" : "Alopecia universalis"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0009588","display" : "Vestibular Schwannoma"},{"system" : "http://purl.obolibrary.org/obo/hp.owl","code" : "HP:0001648","display" : "Cor pulmonale"}]}}

49

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":false},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"urn:oid:2.16.840.1.113883.6.177"}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:371
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:25:12 GMT
server:nginx
x-request-id:18-360687

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system urn:oid:2.16.840.1.113883.6.177
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system urn:oid:2.16.840.1.113883.6.177"}}]}

50

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"excludeNested","valueBoolean":false},{"name":"incomplete-ok","valueBoolean":true},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"mesh-terms","text":{"status":"generated","div":"
Include all codes defined in urn:oid:2.16.840.1.113883.6.177
"},"url":"https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/mesh-terms","version":"0.2.0","name":"MeshTerms","title":"MeSH Terms","status":"draft","experimental":false,"date":"2023-08-08T19:23:30+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"Example terms from Medical Subject Headings (MeSH) Ontology","compose":{"include":[{"system":"urn:oid:2.16.840.1.113883.6.177"}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:371
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:25:12 GMT
server:nginx
x-request-id:18-360690

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system urn:oid:2.16.840.1.113883.6.177
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system urn:oid:2.16.840.1.113883.6.177"}}]}

51

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"includeDefinition","valueBoolean":false},{"name":"excludeNested","valueBoolean":false},{"name":"valueSet","resource":{"resourceType":"ValueSet","status":"active","compose":{"inactive":true,"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C2348584","display":"Subject Unique Identifier"},{"code":"C0079399","display":"Gender"},{"code":"C168843","display":"Age in Days at Enrollment"},{"code":"C1305855","display":"Body mass index"},{"code":"C0872128","display":"case control"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

422
access-control-allow-methods:GET, POST, PUT, PATCH, DELETE
access-control-allow-origin:*
access-control-expose-headers:Content-Location, Location
connection:keep-alive
content-length:373
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:25:16 GMT
server:nginx
x-request-id:18-360701

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]}

52

Request: 

POST http://tx.fhir.org/r4/ValueSet/$expand?_limit=1000&_incomplete=true HTTP/1.0
User-Agent: hapi-fhir-tooling-client
Accept-Charset: UTF-8
Accept: application/fhir+json
Content-Type: application/fhir+json;charset=UTF-8

{"resourceType":"Parameters","parameter":[{"name":"x-system-cache-id","valueString":"dc8fd4bc-091a-424a-8a3b-6198ef146891"},{"name":"excludeNested","valueBoolean":false},{"name":"incomplete-ok","valueBoolean":true},{"name":"tx-resource","resource":{"resourceType":"CodeSystem","id":"hpo","text":{"status":"generated","div":"
Properties
This code system  defines the following properties for its concepts
Code
Type
Description
parent
code
Parent codes.
imported
boolean
Indicates if the concept is imported from another code system.
root
boolean
Indicates if this concept is a root concept (i.e. Thing is equivalent or a direct parent)
deprecated
boolean
Indicates if this concept is deprecated.
Filters
Code
Description
operator
Value
root
= 
True or false.
deprecated
= 
True or false.
imported
= 
True or false
Concepts
This code system http://purl.obolibrary.org/obo/hp.owl provides a fragment that includes following codes:
Code
Display
HP:0000365 
Hearing impairment
HP:0002564 
obsolete Malformation of the heart and great vessels
HP:0001028 
Hemangioma
HP:0000476 
Cystic hygroma
HP:0000568 
Microphthalmia
HP:0000518 
Cataract
HP:0000612 
Iris coloboma
HP:0000567 
Chorioretinal coloboma
HP:0000316 
Hypertelorism
HP:0000482 
Microcornea
HP:0000588 
Optic nerve coloboma
HP:0004426 
Abnormality of the cheek
HP:0009125 
Lipodystrophy
HP:0002023 
Anal atresia
HP:0003468 
Abnormal vertebral morphology
HP:0000545 
Myopia
HP:0000122 
Unilateral renal agenesis
HP:0002143 
Abnormality of the spinal cord
HP:0003508 
Proportionate short stature
HP:0000271 
Abnormality of the face
HP:0000637 
Long palpebral fissure
HP:0000492 
Abnormal eyelid morphology
HP:0000389 
Chronic otitis media
HP:0000400 
Macrotia
HP:0000405 
Conductive hearing impairment
HP:0012712 
Mild hearing impairment
HP:0005280 
Depressed nasal bridge
HP:0000431 
Wide nasal bridge
HP:0000319 
Smooth philtrum
HP:0000175 
Cleft palate
HP:0001611 
Nasal speech
HP:0002099 
Asthma
HP:0001397 
Hepatic steatosis
HP:0001081 
Cholelithiasis
HP:0002650 
Scoliosis
HP:0001212 
Prominent fingertip pads
HP:0001328 
Specific learning disability
HP:0000824 
Growth hormone deficiency
HP:0002607 
Bowel incontinence
HP:0100731 
Transverse facial cleft
HP:0000528 
Anophthalmia
HP:0000601 
Hypotelorism
HP:0000369 
Low-set ears
HP:0001274 
Agenesis of corpus callosum
HP:0002084 
Encephalocele
HP:0007033 
Cerebellar dysplasia
HP:0100336 
Bilateral cleft lip
HP:0100337 
Bilateral cleft palate
HP:0001511 
Intrauterine growth retardation
HP:0011451 
Congenital microcephaly
HP:0000324 
Facial asymmetry
HP:0000581 
Blepharophimosis
HP:0000508 
Ptosis
HP:0008551 
Microtia
HP:0001631 
Atrial septal defect
HP:0000085 
Horseshoe kidney
HP:0011927 
Short digit
HP:0001156 
Brachydactyly
HP:0002066 
Gait ataxia
HP:0001250 
Seizure
HP:0001263 
Global developmental delay
HP:0001562 
Oligohydramnios
HP:0001195 
Single umbilical artery
HP:0006349 
Agenesis of permanent teeth
HP:0000668 
Hypodontia
HP:0000677 
Oligodontia
HP:0001252 
Muscular hypotonia
HP:0003429 
CNS hypomyelination
HP:0010864 
Intellectual disability, severe
HP:0004325 
Decreased body weight
HP:0000666 
Horizontal nystagmus
HP:0000218 
High palate
HP:0010809 
Broad uvula
HP:0000767 
Pectus excavatum
HP:0003691 
Scapular winging
HP:0002616 
Aortic root aneurysm
HP:0001601 
Laryngomalacia
HP:0002021 
Pyloric stenosis
HP:0001388 
Joint laxity
HP:0001187 
Hyperextensibility of the finger joints
HP:0000741 
Apathy
HP:0000817 
Poor eye contact
HP:0000821 
Hypothyroidism
HP:0000002 
Abnormality of body height
HP:0000079 
Abnormality of the urinary system
HP:0000164 
Abnormality of the dentition
HP:0000364 
Hearing abnormality
HP:0000366 
Abnormality of the nose
HP:0000464 
Abnormality of the neck
HP:0000707 
Abnormality of the nervous system
HP:0000708 
Behavioral abnormality
HP:0000769 
Abnormality of the breast
HP:0000772 
Abnormality of the ribs
HP:0000775 
Abnormality of the diaphragm
HP:0000889 
Abnormality of the clavicle
HP:0000925 
Abnormality of the vertebral column
HP:0001080 
Biliary tract abnormality
HP:0001392 
Abnormality of the liver
HP:0001438 
Abnormal abdomen morphology
HP:0001608 
Abnormality of the voice
HP:0001627 
Abnormal heart morphology
HP:0001732 
Abnormality of the pancreas
HP:0001739 
Abnormality of the nasopharynx
HP:0001743 
Abnormality of the spleen
HP:0001760 
Abnormal foot morphology
HP:0001871 
Abnormality of blood and blood-forming tissues
HP:0002031 
Abnormal esophagus morphology
HP:0002244 
Abnormality of the small intestine
HP:0002246 
Abnormality of the duodenum
HP:0002250 
Abnormal large intestine morphology
HP:0002644 
Abnormality of pelvic girdle bone morphology
HP:0002664 
Neoplasm
HP:0002715 
Abnormality of the immune system
HP:0002814 
Abnormality of the lower limb
HP:0002817 
Abnormality of the upper limb
HP:0005483 
Abnormal epiglottis morphology
HP:0008777 
Abnormal vocal cord morphology
HP:0011844 
Abnormal appendicular skeleton morphology
HP:0012732 
Anorectal anomaly
HP:0001508 
Failure to thrive
HP:0002902 
Hyponatremia
HP:0012236 
Elevated sweat chloride
HP:0000347 
Micrognathia
HP:0000926 
Platyspondyly
HP:0001371 
Flexion contracture
HP:0001875 
Neutropenia
HP:0001888 
Lymphopenia
HP:0002857 
Genu valgum
HP:0002986 
Radial bowing
HP:0003015 
Flared metaphysis
HP:0003025 
Metaphyseal irregularity
HP:0003097 
Short femur
HP:0003300 
Ovoid vertebral bodies
HP:0003307 
Hyperlordosis
HP:0004209 
Clinodactyly of the 5th finger
HP:0004322 
Short stature
HP:0005792 
Short humerus
HP:0006248 
Limited wrist movement
HP:0000944 
Abnormality of the metaphysis
HP:0011921 
Exudative pleural effusion
HP:0003043 
Abnormality of the shoulder
HP:0000290 
Abnormality of the forehead
HP:0005288 
Abnormality of the nares
HP:0000234 
Abnormality of the head
HP:0004323 
Abnormality of body weight
HP:0000483 
Astigmatism
HP:0011003 
High myopia
HP:0000470 
Short neck
HP:0030044 
Flexion contracture of digit
HP:0100871 
Abnormality of the palm
HP:0004334 
Dermal atrophy
HP:0001845 
Overlapping toe
HP:0000496 
Abnormality of eye movement
HP:0001780 
Abnormality of toe
HP:0001626 
Abnormality of the cardiovascular system
HP:0002086 
Abnormality of the respiratory system
HP:0000818 
Abnormality of the endocrine system
HP:0012372 
Abnormal eye morphology
HP:0009473 
Joint contracture of the hand
HP:0003199 
Decreased muscle mass
HP:0003202 
Skeletal muscle atrophy
HP:0003551 
Difficulty climbing stairs
HP:0002355 
Difficulty walking
HP:0003546 
Exercise intolerance
HP:0003325 
Limb-girdle muscle weakness
HP:0003701 
Proximal muscle weakness
HP:0003547 
Shoulder girdle muscle weakness
HP:0007340 
Lower limb muscle weakness
HP:0002168 
Scanning speech
HP:0001265 
Hyporeflexia
HP:0001284 
Areflexia
HP:0003477 
Peripheral axonal neuropathy
HP:0000924 
Abnormality of the skeletal system
HP:0001291 
Abnormal cranial nerve morphology
HP:0003687 
Centrally nucleated skeletal muscle fibers
HP:0001324 
Muscle weakness
HP:0002515 
Waddling gait
HP:0100280 
Crohn's disease
HP:0002631 
obsolete Dilatation of ascending aorta
HP:0100026 
Arteriovenous malformation
HP:0002637 
Cerebral ischemia
HP:0002619 
Varicose veins
HP:0001159 
Syndactyly
HP:0002069 
Bilateral tonic-clonic seizure
HP:0000977 
Soft skin
HP:0010648 
Dermal translucency
HP:0000978 
Bruising susceptibility
HP:0001956 
Truncal obesity
HP:0000189 
Narrow palate
HP:0000678 
Dental crowding
HP:0002870 
Obstructive sleep apnea
HP:0001763 
Pes planus
HP:0000782 
Abnormality of the scapula
HP:0001600 
Abnormality of the larynx
HP:0002088 
Abnormal lung morphology
HP:0011407 
Proportionate tall stature
HP:0000541 
Retinal detachment
HP:0001373 
Joint dislocation
HP:0000938 
Osteopenia
HP:0002942 
Thoracic kyphosis
HP:0001840 
Metatarsus adductus
HP:0001844 
Abnormality of the hallux
HP:0001765 
Hammertoe
HP:0000606 
Abnormality of the periorbital region
HP:0002757 
Recurrent fractures
HP:0000647 
Sclerocornea
HP:0001166 
Arachnodactyly
HP:0005490 
Postnatal macrocephaly
HP:0011363 
Abnormality of hair growth rate
HP:0000276 
Long face
HP:0000275 
Narrow face
HP:0000337 
Broad forehead
HP:0002267 
Exaggerated startle response
HP:0002187 
Intellectual disability, profound
HP:0000728 
Impaired ability to form peer relationships
HP:0000733 
Stereotypy
HP:0000739 
Anxiety
HP:0000929 
Abnormal skull morphology
HP:0001965 
Abnormal scalp morphology
HP:0100538 
Abnormality of the supraorbital ridges
HP:0000309 
Abnormality of the midface
HP:0000277 
Abnormality of the mandible
HP:0000765 
Abnormality of the thorax
HP:0100008 
Schwannoma
HP:0030038 
Enchondroma
HP:0100777 
Exostoses
HP:0011663 
Right ventricular cardiomyopathy
HP:0011675 
Arrhythmia
HP:0001962 
Palpitations
HP:0001279 
Syncope
HP:0004756 
Ventricular tachycardia
HP:0000252 
Microcephaly
HP:0000303 
Mandibular prognathia
HP:0000664 
Synophrys
HP:0001609 
Hoarse voice
HP:0002558 
Supernumerary nipple
HP:0001634 
Mitral valve prolapse
HP:0000028 
Cryptorchidism
HP:0000973 
Cutis laxa
HP:0001518 
Small for gestational age
HP:0000527 
Long eyelashes
HP:0002808 
Kyphosis
HP:0000248 
Brachycephaly
HP:0000505 
Visual impairment
HP:0000512 
Abnormal electroretinogram
HP:0000517 
Abnormality of the lens
HP:0000529 
Progressive visual loss
HP:0000586 
Shallow orbits
HP:0000603 
Central scotoma
HP:0000939 
Osteoporosis
HP:0001377 
Limited elbow extension
HP:0001387 
Joint stiffness
HP:0001822 
Hallux valgus
HP:0002657 
Spondylometaphyseal dysplasia
HP:0003026 
Short long bone
HP:0006462 
Generalized bone demineralization
HP:0008873 
Disproportionate short-limb short stature
HP:0008905 
Rhizomelia
HP:0008922 
Childhood-onset short-trunk short stature
HP:0200020 
Corneal erosion
HP:0001172 
Abnormal thumb morphology
HP:0002286 
Fair hair
HP:0010719 
Abnormality of hair texture
HP:0010720 
Abnormal hair pattern
HP:0001635 
Congestive heart failure
HP:0001644 
Dilated cardiomyopathy
HP:0001663 
Ventricular fibrillation
HP:0011712 
Right bundle branch block
HP:0000272 
Malar flattening
HP:0000286 
Epicanthus
HP:0000322 
Short philtrum
HP:0000463 
Anteverted nares
HP:0000494 
Downslanted palpebral fissures
HP:0000543 
Optic disc pallor
HP:0000699 
Diastema
HP:0000773 
Short ribs
HP:0000887 
Cupped ribs
HP:0000946 
Hypoplastic ilia
HP:0000954 
Single transverse palmar crease
HP:0001182 
Tapered finger
HP:0001537 
Umbilical hernia
HP:0002007 
Frontal bossing
HP:0002980 
Femoral bowing
HP:0002982 
Tibial bowing
HP:0003021 
Metaphyseal cupping
HP:0005011 
Mesomelic arm shortening
HP:0008803 
obsolete Narrow sacroiliac notch
HP:0009117 
Aplasia/Hypoplasia of the maxilla
HP:0011220 
Prominent forehead
HP:0012801 
Narrow jaw
HP:0000243 
Trigonocephaly
HP:0000358 
Posteriorly rotated ears
HP:0000411 
Protruding ear
HP:0000646 
Amblyopia
HP:0002812 
Coxa vara
HP:0002970 
Genu varum
HP:0012775 
Stellate iris
HP:0000278 
Retrognathia
HP:0009796 
Branchial cyst
HP:0002474 
Expressive language delay
HP:0007018 
Attention deficit hyperactivity disorder
HP:0003198 
Myopathy
HP:0003324 
Generalized muscle weakness
HP:0003552 
Muscle stiffness
HP:0003554 
Type 2 muscle fiber atrophy
HP:0003557 
Increased variability in muscle fiber diameter
HP:0009025 
Increased connective tissue
HP:0003635 
Loss of subcutaneous adipose tissue in limbs
HP:0002597 
Abnormality of the vasculature
HP:0001649 
Tachycardia
HP:0001638 
Cardiomyopathy
HP:0001654 
Abnormal heart valve morphology
HP:0001671 
Abnormal cardiac septum morphology
HP:0000103 
Polyuria
HP:0000114 
Proximal tubulopathy
HP:0001878 
Hemolytic anemia
HP:0001931 
Hypochromic anemia
HP:0001935 
Microcytic anemia
HP:0001959 
Polydipsia
HP:0001994 
Renal Fanconi syndrome
HP:0002134 
Abnormality of the basal ganglia
HP:0002188 
Delayed CNS myelination
HP:0002908 
Conjugated hyperbilirubinemia
HP:0003774 
Stage 5 chronic kidney disease
HP:0010700 
obsolete Total cataract
HP:0000193 
Bifid uvula
HP:0000219 
Thin upper lip vermilion
HP:0000426 
Prominent nasal bridge
HP:0000452 
Choanal stenosis
HP:0000490 
Deeply set eye
HP:0000540 
Hypermetropia
HP:0000579 
Nasolacrimal duct obstruction
HP:0000684 
Delayed eruption of teeth
HP:0000960 
Sacral dimple
HP:0000998 
Hypertrichosis
HP:0001643 
Patent ductus arteriosus
HP:0010813 
Abnormal number of hair whorls
HP:0012384 
Rhinitis
HP:0012745 
Short palpebral fissure
HP:0000359 
Abnormality of the inner ear
HP:0000429 
Abnormality of the nasal alae
HP:0000436 
Abnormality of the nasal tip
HP:0000499 
Abnormal eyelash morphology
HP:0000534 
Abnormal eyebrow morphology
HP:0000951 
Abnormality of the skin
HP:0001000 
Abnormality of skin pigmentation
HP:0001597 
Abnormality of the nail
HP:0006483 
Abnormal number of teeth
HP:0009929 
Abnormality of the columella
HP:0011119 
Abnormality of the nasal dorsum
HP:0012808 
Abnormal nasal base
HP:0100490 
Camptodactyly of finger
HP:0000964 
Eczema
HP:0004442 
Sagittal craniosynostosis
HP:0000414 
Bulbous nose
HP:0003180 
Flat acetabular roof
HP:0000422 
Abnormality of the nasal bridge
HP:0000614 
Abnormal nasolacrimal system morphology
HP:0001167 
Abnormality of finger
HP:0001595 
Abnormal hair morphology
HP:0012373 
Abnormal eye physiology
HP:0001655 
Patent foramen ovale
HP:0001647 
Bicuspid aortic valve
HP:0000574 
Thick eyebrow
HP:0001169 
Broad palm
HP:0006471 
Fixed elbow flexion
HP:0008689 
Bilateral cryptorchidism
HP:0011304 
Broad thumb
HP:0005110 
Atrial fibrillation
HP:0001633 
Abnormal mitral valve morphology
HP:0001641 
Abnormal pulmonary valve morphology
HP:0001702 
Abnormal tricuspid valve morphology
HP:0000012 
Urinary urgency
HP:0000020 
Urinary incontinence
HP:0000131 
Uterine leiomyoma
HP:0000132 
Menorrhagia
HP:0000138 
Ovarian cyst
HP:0000853 
Goiter
HP:0000953 
Hyperpigmentation of the skin
HP:0001061 
Acne
HP:0002315 
Headache
HP:0004324 
Increased body weight
HP:0000069 
Abnormality of the ureter
HP:0000077 
Abnormality of the kidney
HP:0000759 
Abnormal peripheral nervous system morphology
HP:0008069 
Neoplasm of the skin
HP:0011276 
Vascular skin abnormality
HP:0000705 
Amelogenesis imperfecta
HP:0001256 
Intellectual disability, mild
HP:0000325 
Triangular face
HP:0000160 
Narrow mouth
HP:0009487 
Ulnar deviation of the hand
HP:0001249 
Intellectual disability
HP:0008064 
Ichthyosis
HP:0000311 
Round face
HP:0001653 
Mitral regurgitation
HP:0001771 
Achilles tendon contracture
HP:0012032 
Lipoma
HP:0012368 
Flat face
HP:0030053 
Stiff skin
HP:0011124 
Abnormality of epidermal morphology
HP:0011097 
Epileptic spasm
HP:0000407 
Sensorineural hearing impairment
HP:0000331 
Short chin
HP:0000340 
Sloping forehead
HP:0000486 
Strabismus
HP:0000713 
Agitation
HP:0000802 
Impotence
HP:0001272 
Cerebellar atrophy
HP:0001276 
Hypertonia
HP:0001321 
Cerebellar hypoplasia
HP:0001322 
obsolete Brain very small
HP:0002061 
Lower limb spasticity
HP:0002529 
Neuronal loss in central nervous system
HP:0002540 
Inability to walk
HP:0005484 
Postnatal microcephaly
HP:0012850 
Small intestinal dysmotility
HP:0000504 
Abnormality of vision
HP:0002118 
Abnormality of the cerebral ventricles
HP:0002363 
Abnormality of brainstem morphology
HP:0010651 
Abnormal meningeal morphology
HP:0100024 
Conspicuously happy disposition
HP:0002538 
Abnormality of the cerebral cortex
HP:0000054 
Micropenis
HP:0000215 
Thick upper lip vermilion
HP:0000293 
Full cheeks
HP:0000349 
Widow's peak
HP:0000444 
Convex nasal ridge
HP:0000506 
Telecanthus
HP:0000592 
Blue sclerae
HP:0000691 
Microdontia
HP:0000698 
Conical tooth
HP:0002000 
Short columella
HP:0002097 
Emphysema
HP:0002209 
Sparse scalp hair
HP:0002816 
Genu recurvatum
HP:0005116 
Arterial tortuosity
HP:0007957 
Corneal opacity
HP:0008070 
Sparse hair
HP:0009623 
Proximal placement of thumb
HP:0010055 
Broad hallux
HP:0011318 
Bicoronal synostosis
HP:0011968 
Feeding difficulties
HP:0200067 
Recurrent spontaneous abortion
HP:0011819 
Submucous cleft soft palate
HP:0000268 
Dolichocephaly
HP:0003302 
Spondylolisthesis
HP:0000582 
Upslanted palpebral fissure
HP:0000952 
Jaundice
HP:0001298 
Encephalopathy
HP:0001396 
Cholestasis
HP:0002059 
Cerebral atrophy
HP:0002171 
Gliosis
HP:0002240 
Hepatomegaly
HP:0002353 
EEG abnormality
HP:0002446 
Astrocytosis
HP:0003287 
Abnormality of mitochondrial metabolism
HP:0011449 
Knee clonus
HP:0012852 
Hepatic bridging fibrosis
HP:0100626 
Chronic hepatic failure
HP:0000385 
Small earlobe
HP:0009748 
Large earlobe
HP:0000157 
Abnormality of the tongue
HP:0000172 
Abnormality of the uvula
HP:0000174 
Abnormal palate morphology
HP:0000306 
Abnormality of the chin
HP:0004408 
Abnormality of the sense of smell
HP:0009912 
Abnormality of the tragus
HP:0000537 
Epicanthus inversus
HP:0000565 
Esotropia
HP:0000752 
Hyperactivity
HP:0003186 
Inverted nipples
HP:0012503 
Abnormality of the pituitary gland
HP:0100710 
Impulsivity
HP:0000357 
Abnormal location of ears
HP:0000820 
Abnormality of the thyroid gland
HP:0000828 
Abnormality of the parathyroid gland
HP:0000834 
Abnormality of the adrenal glands
HP:0012093 
Abnormality of endocrine pancreas physiology
HP:0000269 
Prominent occiput
HP:0000535 
Sparse and thin eyebrow
HP:0000639 
Nystagmus
HP:0000718 
Aggressive behavior
HP:0000957 
Cafe-au-lait spot
HP:0000256 
Macrocephaly
HP:0000750 
Delayed speech and language development
HP:0000963 
Thin skin
HP:0001260 
Dysarthria
HP:0002194 
Delayed gross motor development
HP:0003196 
Short nose
HP:0001155 
Abnormality of the hand
HP:0100022 
Abnormality of movement
HP:0010862 
Delayed fine motor development
HP:0000343 
Long philtrum
HP:0000717 
Autism
HP:0001883 
Talipes
HP:0002553 
Highly arched eyebrow
HP:0007488 
Diffuse skin atrophy
HP:0000822 
Hypertension
HP:0001278 
Orthostatic hypotension
HP:0001944 
Dehydration
HP:0001945 
Fever
HP:0002019 
Constipation
HP:0002020 
Gastroesophageal reflux
HP:0002027 
Abdominal pain
HP:0002718 
Recurrent bacterial infections
HP:0002841 
Recurrent fungal infections
HP:0004395 
Malnutrition
HP:0009830 
Peripheral neuropathy
HP:0000126 
Hydronephrosis
HP:0000519 
Developmental cataract
HP:0000648 
Optic atrophy
HP:0001053 
Hypopigmented skin patches
HP:0001087 
Developmental glaucoma
HP:0002119 
Ventriculomegaly
HP:0002280 
Enlarged cisterna magna
HP:0003298 
Spina bifida occulta
HP:0004467 
Preauricular pit
HP:0008511 
Central posterior corneal opacity
HP:0010780 
Hyperacusis
HP:0030048 
Colpocephaly
HP:0100335 
Non-midline cleft lip
HP:0000525 
Abnormality iris morphology
HP:0002719 
Recurrent infections
HP:0000153 
Abnormality of the mouth
HP:0001903 
Anemia
HP:0002094 
Dyspnea
HP:0002206 
Pulmonary fibrosis
HP:0002789 
Tachypnea
HP:0002793 
Abnormal pattern of respiration
HP:0003565 
Elevated erythrocyte sedimentation rate
HP:0006517 
Intraalveolar phospholipid accumulation
HP:0006530 
Interstitial pulmonary abnormality
HP:0100759 
Clubbing of fingers
HP:0002103 
Abnormal pleura morphology
HP:0001596 
Alopecia
HP:0001882 
Leukopenia
HP:0002013 
Vomiting
HP:0002028 
Chronic diarrhea
HP:0002573 
Hematochezia
HP:0002960 
Autoimmunity
HP:0005387 
Combined immunodeficiency
HP:0011109 
Chronic sinusitis
HP:0004429 
Recurrent viral infections
HP:0000280 
Coarse facial features
HP:0000294 
Low anterior hairline
HP:0000577 
Exotropia
HP:0001873 
Thrombocytopenia
HP:0002011 
Morphological central nervous system abnormality
HP:0006610 
Wide intermamillary distance
HP:0011231 
Prominent eyelashes
HP:0012718 
Morphological abnormality of the gastrointestinal tract
HP:0002024 
Malabsorption
HP:0001394 
Cirrhosis
HP:0001414 
Microvesicular hepatic steatosis
HP:0001403 
Macrovesicular hepatic steatosis
HP:0001410 
Decreased liver function
HP:0001409 
Portal hypertension
HP:0001744 
Splenomegaly
HP:0003394 
Muscle spasm
HP:0003750 
Increased muscle fatiguability
HP:0002123 
Generalized myoclonic seizure
HP:0002219 
Facial hypertrichosis
HP:0000831 
Insulin-resistant diabetes mellitus
HP:0001891 
Iron deficiency anemia
HP:0001264 
Spastic diplegia
HP:0002313 
Spastic paraparesis
HP:0001347 
Hyperreflexia
HP:0002460 
Distal muscle weakness
HP:0000763 
Sensory neuropathy
HP:0001268 
Mental deterioration
HP:0002169 
Clonus
HP:0001332 
Dystonia
HP:0100716 
Self-injurious behavior
HP:0000602 
Ophthalmoplegia
HP:0001251 
Ataxia
HP:0000776 
Congenital diaphragmatic hernia
HP:0000410 
Mixed hearing impairment
HP:0000510 
Rod-cone dystrophy
HP:0004437 
Cranial hyperostosis
HP:0011001 
Increased bone mineral density
HP:0000956 
Acanthosis nigricans
HP:0000958 
Dry skin
HP:0000580 
Pigmentary retinopathy
HP:0000649 
Abnormality of visual evoked potentials
HP:0000657 
Oculomotor apraxia
HP:0000479 
Abnormal retinal morphology
HP:0001317 
Abnormal cerebellum morphology
HP:0001533 
Slender build
HP:0001629 
Ventricular septal defect
HP:0000703 
Dentinogenesis imperfecta
HP:0000914 
Shield chest
HP:0001500 
Broad finger
HP:0003086 
Acromesomelia
HP:0003416 
Spinal canal stenosis
HP:0002815 
Abnormality of the knee
HP:0002992 
Abnormality of tibia morphology
HP:0001639 
Hypertrophic cardiomyopathy
HP:0003236 
Elevated serum creatine kinase
HP:0001369 
Arthritis
HP:0003560 
Muscular dystrophy
HP:0003974 
Absent radius
HP:0002818 
Abnormality of the radius
HP:0001561 
Polyhydramnios
HP:0002299 
Brittle hair
HP:0002208 
Coarse hair
HP:0002213 
Fine hair
HP:0000522 
Alacrima
HP:0100704 
Cerebral visual impairment
HP:0012713 
Moderate hearing impairment
HP:0002307 
Drooling
HP:0002714 
Downturned corners of mouth
HP:0000191 
Accessory oral frenulum
HP:0000158 
Macroglossia
HP:0012020 
Right aortic arch
HP:0002104 
Apnea
HP:0000598 
Abnormality of the ear
HP:0007874 
Almond-shaped palpebral fissure
HP:0010804 
Tented upper lip vermilion
HP:0000885 
Broad ribs
HP:0000768 
Pectus carinatum
HP:0001680 
Coarctation of aorta
HP:0000687 
Widely spaced teeth
HP:0000047 
Hypospadias
HP:0001943 
Hypoglycemia
HP:0012369 
Abnormality of malar bones
HP:0009900 
Unilateral deafness
HP:0000023 
Inguinal hernia
HP:0000074 
Ureteropelvic junction obstruction
HP:0001800 
Hypoplastic toenails
HP:0001804 
Hypoplastic fingernail
HP:0002949 
Fused cervical vertebrae
HP:0008050 
Abnormality of the palpebral fissures
HP:0008577 
Underfolded helix
HP:0008589 
Hypoplastic helices
HP:0010863 
Receptive language delay
HP:0002282 
Gray matter heterotopia
HP:0002085 
Occipital encephalocele
HP:0001057 
Aplasia cutis congenita
HP:0000211 
Trismus
HP:0008422 
Vertebral wedging
HP:0003170 
Abnormality of the acetabulum
HP:0003272 
Abnormality of the hip bone
HP:0003028 
Abnormality of the ankles
HP:0003301 
Irregular vertebral endplates
HP:0010508 
Metatarsus valgus
HP:0009811 
Abnormality of the elbow
HP:0000736 
Short attention span
HP:0002912 
Methylmalonic acidemia
HP:0001941 
Acidosis
HP:0001992 
Organic aciduria
HP:0009027 
Foot dorsiflexor weakness
HP:0002063 
Rigidity
HP:0000384 
Preauricular skin tag
HP:0200046 
Cat cry
HP:0001357 
Plagiocephaly
HP:0000670 
Carious teeth
HP:0011090 
Fused teeth
HP:0012810 
Wide nasal base
HP:0010296 
Ankyloglossia
HP:0001636 
Tetralogy of Fallot
HP:0001305 
Dandy-Walker malformation
HP:0000238 
Hydrocephalus
HP:0005469 
Flat occiput
HP:0000270 
Delayed cranial suture closure
HP:0000239 
Large fontanelles
HP:0010537 
Wide cranial sutures
HP:0002217 
Slow-growing hair
HP:0000587 
Abnormality of the optic nerve
HP:0005989 
Redundant neck skin
HP:0010775 
Vascular ring
HP:0002779 
Tracheomalacia
HP:0002827 
Hip dislocation
HP:0001302 
Pachygyria
HP:0007362 
Aplasia/Hypoplasia of the brainstem
HP:0001558 
Decreased fetal movement
HP:0010878 
Fetal cystic hygroma
HP:0011398 
Central hypotonia
HP:0002071 
Abnormality of extrapyramidal motor function
HP:0000826 
Precocious puberty
HP:0000014 
Abnormality of the bladder
HP:0005037 
Proximal radio-ulnar synostosis
HP:0100543 
Cognitive impairment
HP:0000481 
Abnormal cornea morphology
HP:0000076 
Vesicoureteral reflux
HP:0000297 
Facial hypotonia
HP:0000391 
Thickened helices
HP:0001162 
Postaxial hand polydactyly
HP:0001385 
Hip dysplasia
HP:0002342 
Intellectual disability, moderate
HP:0003191 
Cleft ala nasi
HP:0009765 
Low hanging columella
HP:0010297 
Bifid tongue
HP:0011330 
Metopic synostosis
HP:0012804 
Corneal ulceration
HP:0010485 
Hyperextensibility at elbow
HP:0000609 
Optic nerve hypoplasia
HP:0001176 
Large hands
HP:0004233 
Advanced ossification of carpal bones
HP:0100842 
Septo-optic dysplasia
HP:0002034 
Abnormality of the rectum
HP:0002283 
Global brain atrophy
HP:0003115 
Abnormal EKG
HP:0002577 
Abnormal stomach morphology
HP:0002539 
Cortical dysplasia
HP:0006818 
4-layered lissencephaly
HP:0000593 
Abnormal anterior chamber morphology
HP:0000179 
Thick lower lip vermilion
HP:0002002 
Deep philtrum
HP:0009931 
Enlarged naris
HP:0002948 
Vertebral fusion
HP:0002937 
Hemivertebrae
HP:0002308 
Arnold-Chiari malformation
HP:0011320 
Unilambdoid synostosis
HP:0002781 
Upper airway obstruction
HP:0001363 
Craniosynostosis
HP:0000204 
Cleft upper lip
HP:0001738 
Exocrine pancreatic insufficiency
HP:0002823 
Abnormality of femur morphology
HP:0000823 
Delayed puberty
HP:0100279 
Ulcerative colitis
HP:0003834 
Shoulder dislocation
HP:0001065 
Striae distensae
HP:0000448 
Prominent nose
HP:0000554 
Uveitis
HP:0001006 
obsolete Hypotrichosis
HP:0000501 
Glaucoma
HP:0000262 
Turricephaly
HP:0000729 
Autistic behavior
HP:0010800 
Absent cupid's bow
HP:0010808 
Protruding tongue
HP:0009927 
Aplasia of the nose
HP:0100539 
Periorbital edema
HP:0000629 
Periorbital fullness
HP:0000178 
Abnormality of lower lip
HP:0000168 
Abnormality of the gingiva
HP:0001022 
Albinism
HP:0000177 
Abnormality of upper lip
HP:0001337 
Tremor
HP:0002135 
Basal ganglia calcification
HP:0002352 
Leukoencephalopathy
HP:0002514 
Cerebral calcification
HP:0010576 
Intracranial cystic lesion
HP:0001622 
Premature birth
HP:0002415 
Leukodystrophy
HP:0001320 
Cerebellar vermis hypoplasia
HP:0001773 
Short foot
HP:0002750 
Delayed skeletal maturation
HP:0004415 
Pulmonary artery stenosis
HP:0012741 
Unilateral cryptorchidism
HP:0000036 
Abnormality of the penis
HP:0002408 
Cerebral arteriovenous malformation
HP:0007457 
Prominent veins on trunk
HP:0000378 
Cupped ear
HP:0000396 
Overfolded helix
HP:0000035 
Abnormal testis morphology
HP:0009895 
Abnormality of the crus of the helix
HP:0000034 
Hydrocele testis
HP:0000722 
Obsessive-compulsive behavior
HP:0000845 
Growth hormone excess
HP:0100829 
Galactorrhea
HP:0001578 
Increased circulating cortisol level
HP:0000786 
Primary amenorrhea
HP:0001701 
Pericarditis
HP:0002076 
Migraine
HP:0004755 
Supraventricular tachycardia
HP:0010522 
Dyslexia
HP:0004313 
Decreased circulating antibody level
HP:0000011 
Neurogenic bladder
HP:0000641 
Dysmetric saccades
HP:0007772 
Impaired smooth pursuit
HP:0001583 
Rotary nystagmus
HP:0010544 
Vertical nystagmus
HP:0012735 
Cough
HP:0002075 
Dysdiadochokinesis
HP:0007256 
Abnormal pyramidal sign
HP:0001257 
Spasticity
HP:0002321 
Vertigo
HP:0002384 
Focal impaired awareness seizure
HP:0011376 
Morphological abnormality of the vestibule of the inner ear
HP:0002326 
Transient ischemic attack
HP:0005584 
Renal cell carcinoma
HP:0003124 
Hypercholesterolemia
HP:0003002 
Breast carcinoma
HP:0004953 
obsolete Dilatation of abdominal aorta
HP:0004944 
Dilatation of the cerebral artery
HP:0000100 
Nephrotic syndrome
HP:0002783 
Recurrent lower respiratory tract infections
HP:0003470 
Paralysis
HP:0006597 
Diaphragmatic paralysis
HP:0008151 
Prolonged prothrombin time
HP:0010628 
Facial palsy
HP:0011892 
Low levels of vitamin K
HP:0001075 
Atrophic scars
HP:0001816 
Thin nail
HP:0002216 
Premature graying of hair
HP:0003401 
Paresthesia
HP:0100134 
Abnormality of the axillary hair
HP:0100797 
Toenail dysplasia
HP:0010461 
Abnormality of the male genitalia
HP:0000044 
Hypogonadotropic hypogonadism
HP:0100568 
Neoplasm of the endocrine system
HP:0001646 
Abnormal aortic valve morphology
HP:0000813 
Bicornuate uterus
HP:0004380 
Aortic valve calcification
HP:0001650 
Aortic valve stenosis
HP:0000073 
Ureteral duplication
HP:0100651 
Type I diabetes mellitus
HP:0000819 
Diabetes mellitus
HP:0000573 
Retinal hemorrhage
HP:0005264 
Abnormality of the gallbladder
HP:0000475 
Broad neck
HP:0000089 
Renal hypoplasia
HP:0000921 
Missing ribs
HP:0001789 
Hydrops fetalis
HP:0002089 
Pulmonary hypoplasia
HP:0003422 
Vertebral segmentation defect
HP:0002323 
Anencephaly
HP:0000341 
Narrow forehead
HP:0002869 
Flared iliac wings
HP:0003100 
Slender long bone
HP:0003275 
Narrow pelvis bone
HP:0009891 
Underdeveloped supraorbital ridges
HP:0011039 
Abnormality of the helix
HP:0008572 
External ear malformation
HP:0009738 
Abnormality of the antihelix
HP:0011328 
Abnormality of fontanelles
HP:0012155 
Decreased corneal sensation
HP:0004602 
Cervical C2/C3 vertebral fusion
HP:0002997 
Abnormality of the ulna
HP:0009777 
Absent thumb
HP:0002893 
Pituitary adenoma
HP:0040278 
Prolactinoma
HP:0001555 
Asymmetry of the thorax
HP:0000902 
Rib fusion
HP:0002164 
Nail dysplasia
HP:0011314 
Abnormality of long bone morphology
HP:0002867 
Abnormality of the ilium
HP:0000774 
Narrow chest
HP:0006482 
Abnormality of dental morphology
HP:0004383 
Hypoplastic left heart
HP:0002015 
Dysphagia
HP:0500093 
Food allergy
HP:0001519 
Disproportionate tall stature
HP:0003179 
Protrusio acetabuli
HP:0007385 
Aplasia cutis congenita of scalp
HP:0000716 
Depressivity
HP:0012583 
Unilateral renal hypoplasia
HP:0000618 
Blindness
HP:0001004 
Lymphedema
HP:0002652 
Skeletal dysplasia
HP:0012520 
Perivascular spaces
HP:0005293 
Venous insufficiency
HP:0012432 
Chronic fatigue
HP:0002578 
Gastroparesis
HP:0001658 
Myocardial infarction
HP:0001802 
Absent toenail
HP:0001821 
Broad nail
HP:0000807 
Glandular hypospadias
HP:0100582 
Nasal polyposis
HP:0002653 
Bone pain
HP:0001073 
Cigarette-paper scars
HP:0031913 
Rhombencephalosynapsis
HP:0002617 
Dilatation
HP:0005107 
Abnormal sacrum morphology
HP:0002025 
Anal stenosis
HP:0009099 
Median cleft palate
HP:0003212 
Increased circulating IgE level
HP:0001319 
Neonatal hypotonia
HP:0002659 
Increased susceptibility to fractures
HP:0025246 
Trichilemmal cyst
HP:0002107 
Pneumothorax
HP:0000107 
Renal cyst
HP:0001025 
Urticaria
HP:0002204 
Pulmonary embolism
HP:0001058 
Poor wound healing
HP:0003010 
Prolonged bleeding time
HP:0100502 
Vitamin B12 deficiency
HP:0100510 
Low levels of vitamin C
HP:0030976 
Abnormal factor VIII activity
HP:0100789 
Torus palatinus
HP:0000108 
Renal corticomedullary cysts
HP:0000072 
Hydroureter
HP:0000019 
Urinary hesitancy
HP:0100771 
Hypoperistalsis
HP:0000021 
Megacystis
HP:0004388 
Microcolon
HP:0005247 
Hypoplasia of the abdominal wall musculature
HP:0004794 
Malrotation of small bowel
HP:0000045 
Abnormality of the scrotum
HP:0002236 
Frontal upsweep of hair
HP:0000212 
Gingival overgrowth
HP:0001808 
Fragile nails
HP:0000225 
Gingival bleeding
HP:0006009 
Broad phalanx
HP:0001837 
Broad toe
HP:0001946 
Ketosis
HP:0002490 
Increased CSF lactate
HP:0002922 
Increased CSF protein
HP:0003128 
Lactic acidosis
HP:0003111 
Abnormal blood ion concentration
HP:0032234 
Increased circulating creatine kinase MM isoform
HP:0003348 
Hyperalaninemia
HP:0008347 
Decreased activity of mitochondrial complex IV
HP:0000326 
Abnormality of the maxilla
HP:0010758 
Abnormality of the premaxilla
HP:0005681 
Juvenile rheumatoid arthritis
HP:0000514 
Slow saccadic eye movements
HP:0002788 
Recurrent upper respiratory tract infections
HP:0003396 
Syringomyelia
HP:0003011 
Abnormality of the musculature
HP:0002098 
Respiratory distress
HP:0002018 
Nausea
HP:0002014 
Diarrhea
HP:0025168 
Left ventricular diastolic dysfunction
HP:0001679 
Abnormal aortic morphology
HP:0000159 
Abnormal lip morphology
HP:0011338 
Abnormality of mouth shape
HP:0000478 
Abnormality of the eye
HP:0000154 
Wide mouth
HP:0001513 
Obesity
HP:0002475 
Myelomeningocele
HP:0003765 
Psoriasiform dermatitis
HP:0010289 
Cleft of alveolar ridge of maxilla
HP:0003908 
Corner fracture of metaphysis
HP:0002190 
Choroid plexus cyst
HP:0004370 
Abnormality of temperature regulation
HP:0011611 
Interrupted aortic arch
HP:0000737 
Irritability
HP:0001344 
Absent speech
HP:0002376 
Developmental regression
HP:0002140 
Ischemic stroke
HP:0001287 
Meningitis
HP:0002721 
Immunodeficiency
HP:0000041 
Chordee
HP:0012854 
Midshaft hypospadias
HP:0000808 
Penoscrotal hypospadias
HP:0000048 
Bifid scrotum
HP:0001047 
Atopic dermatitis
HP:0001621 
Weak voice
HP:0002372 
Normal interictal EEG
HP:0012803 
Anisometropia
HP:0011386 
Narrow internal auditory canal
HP:0012714 
Severe hearing impairment
HP:0006485 
Agenesis of incisor
HP:0000787 
Nephrolithiasis
HP:0011332 
Hemifacial hypoplasia
HP:0001909 
Leukemia
HP:0004808 
Acute myeloid leukemia
HP:0006495 
Aplasia/Hypoplasia of the ulna
HP:0001180 
Hand oligodactyly
HP:0002991 
Abnormality of fibula morphology
HP:0001849 
Foot oligodactyly
HP:0006507 
Aplasia/hypoplasia of the humerus
HP:0005613 
Aplasia/hypoplasia of the femur
HP:0006492 
Aplasia/Hypoplasia of the fibula
HP:0000098 
Tall stature
HP:0003311 
Hypoplasia of the odontoid process
HP:0005752 
Flattened moderately deformed vertebrae
HP:0030039 
Fused thoracic vertebrae
HP:0003304 
Spondylolysis
HP:0001659 
Aortic regurgitation
HP:0002984 
Hypoplasia of the radius
HP:0009944 
Partial duplication of thumb phalanx
HP:0005819 
Short middle phalanx of finger
HP:0002110 
Bronchiectasis
HP:0001677 
Coronary artery atherosclerosis
HP:0001737 
Pancreatic cysts
HP:0005113 
Aortic arch aneurysm
HP:0003022 
Hypoplasia of the ulna
HP:0002205 
Recurrent respiratory infections
HP:0001669 
Transposition of the great arteries
HP:0001716 
Wolff-Parkinson-White syndrome
HP:0002758 
Osteoarthritis
HP:0002037 
Inflammation of the large intestine
HP:0009892 
Anotia
HP:0011331 
Hemifacial atrophy
HP:0009118 
Aplasia/Hypoplasia of the mandible
HP:0009940 
Asymmetry of the mandible
HP:0000682 
Abnormality of dental enamel
HP:0009908 
Anterior creases of earlobe
HP:0001541 
Ascites
HP:0006687 
Aortic tortuosity
HP:0010535 
Sleep apnea
HP:0100633 
Esophagitis
HP:0002105 
Hemoptysis
HP:0002613 
Biliary cirrhosis
HP:0004469 
Chronic bronchitis
HP:0002720 
Decreased circulating IgA level
HP:0002904 
Hyperbilirubinemia
HP:0003237 
Increased circulating IgG level
HP:0003262 
Smooth muscle antibody positivity
HP:0011227 
Elevated C-reactive protein level
HP:0001852 
Sandal gap
HP:0004381 
Supravalvular aortic stenosis
HP:0100700 
Abnormal arachnoid mater morphology
HP:0002624 
Abnormal venous morphology
HP:0002289 
Alopecia universalis
HP:0009588 
Vestibular Schwannoma
HP:0001648 
Cor pulmonale
HP:0002091 
Restrictive ventilatory defect
HP:0002092 
Pulmonary arterial hypertension
HP:0002113 
Pulmonary infiltrates
HP:0003138 
Increased blood urea nitrogen
HP:0003259 
Elevated serum creatinine
HP:0005180 
Tricuspid regurgitation
HP:0012585 
Renal atrophy
HP:0005133 
Right ventricular dilatation
HP:0005575 
Hemolytic-uremic syndrome
HP:0001697 
Abnormal pericardium morphology
HP:0012486 
Myelitis
HP:0002385 
Paraparesis
HP:0006706 
Cystic liver disease
HP:0010880 
Increased nuchal translucency
HP:0000457 
Depressed nasal ridge
HP:0002263 
Exaggerated cupid's bow
HP:0002500 
Abnormality of the cerebral white matter
HP:0002835 
Aspiration
HP:0000600 
Abnormality of the pharynx
HP:0004327 
Abnormal vitreous humor morphology
HP:0004378 
Abnormality of the anus
HP:0012374 
obsolete Abnormal globe morphology
HP:0100768 
Choriocarcinoma
HP:0030991 
Sclerosing cholangitis
HP:0006510 
Chronic pulmonary obstruction
HP:0000710 
Hyperorality
HP:0001270 
Motor delay
HP:0001548 
Overgrowth
HP:0002311 
Incoordination
HP:0006288 
Advanced eruption of teeth
HP:0006323 
Premature loss of primary teeth
HP:0009890 
High anterior hairline
HP:0100034 
Motor tics
HP:0100035 
Phonic tics
HP:0000348 
High forehead
HP:0001520 
Large for gestational age
HP:0001239 
Wrist flexion contracture
HP:0007359 
Focal-onset seizure
HP:0000430 
Underdeveloped nasal alae
HP:0007400 
Irregular hyperpigmentation
HP:0100495 
Mastocytosis
HP:0012378 
Fatigue
HP:0002046 
Heat intolerance
HP:0003270 
Abdominal distention
HP:0002180 
Neurodegeneration
HP:0003493 
Antinuclear antibody positivity
HP:0030057 
Autoimmune antibody positivity
HP:0006802 
Abnormal anterior horn cell morphology
HP:0000064 
Hypoplastic labia minora
HP:0000338 
Hypomimic face
HP:0001642 
Pulmonic stenosis
HP:0011344 
Severe global developmental delay
HP:0200007 
Abnormal size of the palpebral fissures
HP:0004464 
Postauricular pit
HP:0000130 
Abnormality of the uterus
HP:0000137 
Abnormality of the ovary
HP:0000142 
Abnormal vagina morphology
HP:0000370 
Abnormality of the middle ear
HP:0011787 
Central hypothyroidism
HP:0000274 
Small face
HP:0000446 
Narrow nasal bridge
HP:0000622 
Blurred vision
HP:0001245 
Small thenar eminence
HP:0009601 
Aplasia/Hypoplasia of the thumb
HP:0011343 
Moderate global developmental delay
HP:0000419 
Abnormality of the nasal septum
HP:0000502 
Abnormal conjunctiva morphology
HP:0000591 
Abnormal sclera morphology
HP:0000615 
Abnormal pupil morphology
HP:0001163 
Abnormality of the metacarpal bones
HP:0001832 
Abnormal metatarsal morphology
HP:0001850 
Abnormality of the tarsal bones
HP:0010490 
Abnormality of the palmar creases
HP:0010881 
Abnormality of the umbilical cord
HP:0009113 
Diaphragmatic weakness
HP:0011664 
Left ventricular noncompaction cardiomyopathy
HP:0100240 
Synostosis of joints
HP:0001838 
Rocker bottom foot
HP:0003717 
Minimal subcutaneous fat
HP:0001339 
Lissencephaly
HP:0001591 
Bell-shaped thorax
HP:0002655 
Spondyloepiphyseal dysplasia
HP:0002983 
Micromelia
HP:0003016 
Metaphyseal widening
HP:0009826 
Limb undergrowth
HP:0004488 
Macrocephaly at birth
HP:0001695 
Cardiac arrest
HP:0001712 
Left ventricular hypertrophy
HP:0100775 
Dural ectasia
HP:0000846 
Adrenal insufficiency
HP:0002925 
Increased thyroid-stimulating hormone level
HP:0100646 
Thyroiditis
HP:0000836 
Hyperthyroidism
HP:0004414 
Abnormality of the pulmonary artery
HP:0000465 
Webbed neck
HP:0000723 
Restrictive behavior
HP:0002253 
Colonic diverticula
HP:0001310 
Dysmetria
HP:0000093 
Proteinuria
HP:0002907 
Microscopic hematuria
HP:0003073 
Hypoalbuminemia
HP:0004315 
Decreased circulating IgG level
HP:0000795 
Abnormality of the urethra
HP:0001015 
Prominent superficial veins
HP:0004691 
2-3 toe syndactyly
HP:0005328 
Progeroid facial appearance
HP:0005487 
Prominent metopic ridge
HP:0007552 
Abnormal subcutaneous fat tissue distribution
HP:0100678 
Premature skin wrinkling
HP:0031137 
Storage in hepatocytes
HP:0002521 
Hypsarrhythmia
HP:0005390 
Recurrent opportunistic infections
HP:0002716 
Lymphadenopathy
HP:0005379 
obsolete Severe T lymphocytopenia
HP:0004432 
Agammaglobulinemia
HP:0006695 
Atrioventricular canal defect
HP:0001733 
Pancreatitis
HP:0002350 
Cerebellar cyst
HP:0012110 
Hypoplasia of the pons
HP:0001948 
Alkalosis
HP:0003113 
Hypochloremia
HP:0003155 
Elevated alkaline phosphatase
HP:0003542 
Increased serum pyruvate
HP:0000421 
Epistaxis
HP:0200136 
Oral-pharyngeal dysphagia
HP:0000805 
Enuresis
HP:0005616 
Accelerated skeletal maturation
HP:0002459 
obsolete Dysautonomia
HP:0007302 
Bipolar affective disorder
HP:0100602 
Preeclampsia
HP:0100508 
Abnormality of vitamin metabolism
HP:0001140 
Limbal dermoid
HP:0000143 
Rectovaginal fistula
HP:0001746 
Asplenia
HP:0012715 
Profound hearing impairment
HP:0001748 
Polysplenia
HP:0003072 
Hypercalcemia
HP:0002905 
Hyperphosphatemia
HP:0002901 
Hypocalcemia
HP:0001367 
Abnormal joint morphology
HP:0010562 
Keloids
HP:0004430 
Severe combined immunodeficiency
HP:0000003 
Multicystic kidney dysplasia
HP:0010980 
Hyperlipoproteinemia
HP:0002155 
Hypertriglyceridemia
HP:0000520 
Proptosis
HP:0000180 
Lobulated tongue
HP:0005486 
Small fontanelle
HP:0000891 
Cervical ribs
HP:0002557 
Hypoplastic nipples
HP:0009112 
Aplasia of the left hemidiaphragm
HP:0001719 
Double outlet right ventricle
HP:0001682 
Subvalvular aortic stenosis
HP:0001667 
Right ventricular hypertrophy
HP:0002101 
Abnormal lung lobation
HP:0002202 
Pleural effusion
HP:0002566 
Intestinal malrotation
HP:0004510 
Pancreatic islet-cell hyperplasia
HP:0001747 
Accessory spleen
HP:0002181 
Cerebral edema
HP:0000967 
Petechiae
HP:0009702 
Carpal synostosis
HP:0000927 
Abnormality of skeletal maturation
HP:0004348 
Abnormality of bone mineral density
HP:0003019 
Abnormality of the wrist
HP:0003063 
Abnormality of the humerus
HP:0001059 
Pterygium
HP:0001528 
Hemihypertrophy
HP:0011228 
Horizontal eyebrow
HP:0000766 
Abnormality of the sternum
HP:0001254 
Lethargy
HP:0002360 
Sleep disturbance
HP:0001063 
Acrocyanosis
HP:0001769 
Broad foot
HP:0010280 
Stomatitis
HP:0001288 
Gait disturbance
HP:0008330 
Reduced von Willebrand factor activity
HP:0001954 
Recurrent fever
HP:0004311 
Abnormal macrophage morphology
HP:0012539 
Non-Hodgkin lymphoma
HP:0002074 
Increased neuronal autofluorescent lipopigment
HP:0002973 
Abnormality of the forearm
HP:0003203 
Impaired oxidative burst
HP:0003027 
Mesomelia
HP:0002754 
Osteomyelitis
HP:0004431 
Complement deficiency
HP:0001258 
Spastic paraplegia
HP:0012811 
Wide nasal ridge
HP:0011832 
Narrow nasal tip
HP:0000288 
Abnormality of the philtrum
HP:0002357 
Dysphasia
HP:0000871 
Panhypopituitarism
HP:0000233 
Thin vermilion border
HP:0003281 
Increased serum ferritin
HP:0010752 
Cleft mandible
HP:0000437 
Depressed nasal tip
HP:0000453 
Choanal atresia
HP:0000863 
Central diabetes insipidus
HP:0000058 
Abnormality of the labia
HP:0007418 
Alopecia totalis
HP:0100765 
Abnormality of the tonsils
HP:0100747 
Macrodactyly of toe
HP:0002109 
obsolete Abnormality of the bronchi
HP:0011950 
Bronchiolitis
HP:0002850 
Decreased circulating total IgM
HP:0001395 
Hepatic fibrosis
HP:0010701 
Abnormal immunoglobulin level
HP:0009928 
Thick nasal alae
HP:0010807 
Open bite
HP:0002126 
Polymicrogyria
HP:0002900 
Hypokalemia
HP:0000155 
Oral ulcer
HP:0000135 
Hypogonadism
HP:0100783 
Breast aplasia
HP:0000336 
Prominent supraorbital ridges
HP:0010557 
Overlapping fingers
HP:0005100 
Premature birth following premature rupture of fetal membranes
HP:0002594 
Pancreatic hypoplasia
HP:0010109 
Short hallux
HP:0002334 
Abnormality of the cerebellar vermis
HP:0003326 
Myalgia
HP:0001645 
Sudden cardiac death
HP:0001612 
Weak cry
HP:0001618 
Dysphonia
HP:0001336 
Myoclonus
HP:0001283 
Bulbar palsy
HP:0002080 
Intention tremor
HP:0002174 
Postural tremor
HP:0002064 
Spastic gait
HP:0009800 
Maternal diabetes
HP:0001662 
Bradycardia
HP:0006595 
Scapulohumeral synostosis
HP:0005815 
Supernumerary ribs
HP:0000307 
Pointed chin
HP:0012371 
Hyperplasia of midface
HP:0002643 
Neonatal respiratory distress
HP:0002093 
Respiratory insufficiency
HP:0010310 
Chylothorax
HP:0006376 
Limited elbow flexion
HP:0006467 
Limited shoulder movement
HP:0010505 
Limitation of movement at ankles
HP:0010501 
Limitation of knee mobility
HP:0009896 
Abnormality of the antitragus
HP:0004404 
Abnormal nipple morphology
HP:0011957 
Abnormal pectoral muscle morphology
HP:0000777 
Abnormality of the thymus
HP:0000418 
Narrow nasal ridge
HP:0001572 
Macrodontia
HP:0002967 
Cubitus valgus
HP:0000988 
Skin rash
HP:0009733 
Glioma
HP:0012452 
Restless legs
HP:0100031 
Neoplasm of the thyroid gland
HP:0030127 
Endometriosis
HP:0000123 
Nephritis
HP:0001974 
Leukocytosis
HP:0010976 
B lymphocytopenia
HP:0000010 
Recurrent urinary tract infections
HP:0100807 
Long fingers
HP:0000653 
Sparse eyelashes
HP:0000171 
Microglossia
HP:0002575 
Tracheoesophageal fistula
HP:0009933 
Narrow naris
HP:0000883 
Thin ribs
HP:0000121 
Nephrocalcinosis
HP:0001349 
Facial diplegia
HP:0012037 
Pectoralis amyotrophy
HP:0100560 
Upper limb asymmetry
HP:0005684 
Distal arthrogryposis
HP:0010722 
Asymmetry of the ears
HP:0009380 
Aplasia of the fingers
HP:0001657 
Prolonged QT interval
HP:0002040 
Esophageal varix
HP:0000613 
Photophobia
HP:0000561 
Absent eyelashes
HP:0002223 
Absent eyebrow
HP:0002591 
Polyphagia
HP:0002373 
Febrile seizure (within the age range of 3 months to 6 years)
HP:0002419 
Molar tooth sign on MRI
HP:0001010 
Hypopigmentation of the skin
HP:0005772 
Aplasia/Hypoplasia of the tibia
HP:0002211 
White forelock
HP:0007126 
Proximal amyotrophy
HP:0003798 
Nemaline bodies
HP:0006533 
Bronchodysplasia
HP:0003391 
Gowers sign
HP:0000771 
Gynecomastia
HP:0100785 
Insomnia
HP:0010529 
Echolalia
HP:0000363 
Abnormality of earlobe
HP:0002612 
Congenital hepatic fibrosis
HP:0006721 
Acute lymphoblastic leukemia
HP:0001958 
Nonketotic hypoglycemia
HP:0003457 
EMG abnormality
HP:0010636 
Schizencephaly
HP:0005266 
Intestinal polyp
HP:0200063 
Colorectal polyposis
HP:0001762 
Talipes equinovarus
HP:0000056 
Abnormality of the clitoris
HP:0008655 
Aplasia/Hypoplasia of the fallopian tube
HP:0002072 
Chorea
HP:0008734 
Decreased testicular size
HP:0002136 
Broad-based gait
HP:0010958 
Bilateral renal agenesis
HP:0002510 
Spastic tetraplegia
HP:0003234 
Decreased plasma carnitine
HP:0000720 
Mood swings
HP:0012638 
Abnormal nervous system physiology
HP:0002803 
Congenital contracture
HP:0000152 
Abnormality of head or neck
HP:0004377 
Hematological neoplasm
HP:0100006 
Neoplasm of the central nervous system
HP:0012759 
Neurodevelopmental abnormality
HP:0011805 
Abnormal skeletal muscle morphology
HP:0003634 
Amyoplasia
HP:0001507 
Growth abnormality
HP:0001939 
Abnormality of metabolism/homeostasis
HP:0011013 
Abnormal circulating carbohydrate concentration
HP:0410008 
Abnormality of the peripheral nervous system
HP:0200134 
Epileptic encephalopathy
HP:0001881 
Abnormal leukocyte morphology
HP:0005549 
obsolete Congenital neutropenia
HP:0004439 
Craniofacial dysostosis
HP:0012443 
Abnormality of brain morphology
HP:0000202 
Oral cleft
HP:0011842 
Abnormality of skeletal morphology
HP:0003808 
Abnormal muscle tone
HP:0001574 
Abnormality of the integument
HP:0030056 
Uncombable hair
HP:0003549 
Abnormality of connective tissue
HP:0030875 
Abnormality of pulmonary circulation
HP:0000118 
Phenotypic abnormality
HP:0012469 
Infantile spasms
HP:0032894 
Seizure precipitated by febrile infection
HP:0100661 
Trigeminal neuralgia
HP:0012207 
Reduced sperm motility
HP:0000798 
Oligospermia
HP:0012864 
Abnormal sperm morphology
HP:0008232 
Elevated circulating follicle stimulating hormone level
HP:0040306 
Decreased male libido
HP:0012208 
Immotile sperm
HP:0000027 
Azoospermia
HP:0000870 
Increased circulating prolactin concentration
HP:0008187 
Absence of secondary sex characteristics
HP:0010469 
Absent testis
HP:0011969 
Elevated circulating luteinizing hormone level
HP:0040171 
Decreased serum testosterone level
HP:0003251 
Male infertility
HP:0009804 
Reduced number of teeth
HP:0000548 
Cone/cone-rod dystrophy
HP:0000546 
Retinal degeneration
HP:0008002 
Abnormality of macular pigmentation
HP:0000608 
Macular degeneration
HP:0030611 
Retinal pigment epithelial loss on macular OCT
HP:0001135 
Chorioretinal dystrophy
HP:0030468 
Abnormal multifocal electroretinogram
HP:00030532 
Visual acuity test abnormality
HP:0007401 
Macular atrophy
HP:0030466 
Abnormal full-field electroretinogram
HP:007737 
Bone spicule pigmentation of the retina
HP:0011342 
Mild global developmental delay
HP:0030610 
Photoreceptor outer segment loss on macular OCT
HP:0007722 
Retinal pigment epithelial atrophy
HP:0030493 
Abnormality of foveal pigmentation
HP:0007843 
Attenuation of retinal blood vessels
HP:0007754 
Macular dystrophy
HP:0011509 
Macular hyperpigmentation
HP:0008527 
Congenital sensorineural hearing impairment
HP:0200070 
Peripheral retinal atrophy
HP:0007793 
Granular macular appearance
HP:0007987 
Progressive visual field defects
HP:0100817 
Renovascular hypertension
HP:0007868 
obsolete Age-related macular degeneration
HP:0030527 
Very severe constriction of peripheral visual field
HP:0030551 
Visual acuity light perception with projection
HP:0011505 
Cystoid macular edema
HP:0010442 
Polydactyly
HP:0007642 
Congenital stationary night blindness
HP:0009073 
Progressive proximal muscle weakness
HP:0003741 
Congenital muscular dystrophy
HP:0100299 
Muscle fiber inclusion bodies
HP:0003540 
Impaired platelet aggregation
HP:0010489 
Absent palmar crease
HP:0009824 
Upper limb undergrowth
HP:0002395 
Lower limb hyperreflexia
HP:0001138 
Optic neuropathy
HP:0007103 
Hypointensity of cerebral white matter on MRI
HP:0003458 
EMG: myopathic abnormalities
HP:0002987 
Elbow flexion contracture
HP:0006466 
Ankle flexion contracture
HP:0008458 
Progressive congenital scoliosis
HP:0000473 
Torticollis
HP:0011800 
Midface retrusion
HP:0000597 
Ophthalmoparesis
HP:0005853 
Congenital foot contraction deformities
HP:0007002 
Motor axonal neuropathy
HP:0003327 
Axial muscle weakness
HP:0003306 
Spinal rigidity
HP:0002068 
Neuromuscular dysphagia
HP:0001002 
obsolete Decreased subcutaneous fat
HP:0002880 
obsolete Respiratory difficulties
HP:0006829 
Severe muscular hypotonia
HP:0011448 
Ankle clonus
HP:0003487 
Babinski sign
HP:0002378 
Hand tremor
HP:0002747 
Respiratory insufficiency due to muscle weakness
HP:0002579 
Gastrointestinal dysmotility
HP:0001041 
Facial erythema
HP:0040180 
Hyperkeratosis pilaris
HP:0001382 
Joint hypermobility
HP:0003722 
Neck flexor weakness
HP:0003323 
Progressive muscle weakness
HP:0002380 
Fasciculations
HP:0012785 
Flexion contracture of finger
HP:0007936 
Restrictive external ophthalmoplegia
HP:0030319 
Weakness of facial musculature
HP:0008936 
Muscular hypotonia of the trunk
HP:0030230 
Central core regions in muscle fibers
HP:0011471 
Gastrostomy tube feeding in infancy
HP:0001290 
Generalized hypotonia
HP:0002421 
Poor head control
HP:0010301 
Spinal dysraphism
HP:0004303 
Abnormal muscle fiber morphology
HP:0009046 
Difficulty running
HP:0003715 
Myofibrillar myopathy
HP:0000467 
Neck muscle weakness
HP:0001999 
Abnormal facial shape
HP:0002751 
Kyphoscoliosis
HP:0030223 
Perseveration
HP:0002344 
Progressive neurologic deterioration
HP:0002522 
Areflexia of lower limbs
HP:0003805 
Rimmed vacuoles
HP:0005781 
Contractures of the large joints
HP:0040083 
Toe walking
HP:0003749 
Pelvic girdle muscle weakness
HP:0012444 
Brain atrophy
HP:0003738 
Exercise-induced myalgia
HP:0003756 
Skeletal myopathy
HP:0002492 
Morphological abnormality of the corticospinal tract
HP:0100302 
Muscle fiber tubuloreticular inclusions
HP:0006817 
Aplasia/Hypoplasia of the cerebellar vermis
HP:0003473 
Fatigable weakness
HP:0002077 
Migraine with aura
HP:0100559 
Lower limb asymmetry
HP:0002079 
Hypoplasia of the corpus callosum
HP:0002804 
Arthrogryposis multiplex congenita
HP:0011623 
Muscular ventricular septal defect
HP:0002191 
Progressive spasticity
HP:0003390 
Sensory axonal neuropathy
HP:0006986 
Upper limb spasticity
HP:0002464 
Spastic dysarthria
HP:0001308 
Tongue fasciculations
HP:0007010 
Poor fine motor coordination
HP:0003737 
Mitochondrial myopathy
HP:0008012 
obsolete Congenital myopia
HP:0008872 
Feeding difficulties in infancy
HP:0005750 
Contractures of the joints of the lower limbs
HP:0009067 
Progressive spinal muscular atrophy
HP:0001623 
Breech presentation
HP:0001374 
Congenital hip dislocation
HP:0002359 
Frequent falls
HP:0003803 
Type 1 muscle fiber predominance
HP:0011410 
Caesarian section
HP:0008947 
Infantile muscular hypotonia
HP:0100501 
Recurrent bronchiolitis
HP:0003789 
Minicore myopathy
HP:0000544 
External ophthalmoplegia
HP:0001605 
Vocal cord paralysis
HP:0003712 
Skeletal muscle hypertrophy
HP:0012507 
Weakness of orbicularis oculi muscle
HP:0009816 
Lower limb undergrowth
HP:0008935 
Generalized neonatal hypotonia
HP:0003484 
Upper limb muscle weakness
HP:0008331 
Elevated creatine kinase after exercise
HP:0001315 
Reduced tendon reflexes
HP:0012473 
Tongue atrophy
HP:0003273 
Hip contracture
HP:0006380 
Knee flexion contracture
HP:0003752 
Episodic flaccid weakness
HP:0100298 
Motheaten muscle fibers
HP:0003693 
Distal amyotrophy
HP:0002167 
Neurological speech impairment
HP:0003388 
Easy fatigability
HP:0001348 
Brisk reflexes
HP:0003445 
EMG: neuropathic changes
HP:0009063 
Progressive distal muscle weakness
HP:0003720 
Generalized muscle hypertrophy
HP:0002493 
Upper motor neuron dysfunction
HP:0012448 
Delayed myelination
HP:0001338 
Partial agenesis of the corpus callosum
HP:0006879 
Pontocerebellar atrophy
HP:0200101 
Decreased/absent ankle reflexes
HP:0009020 
Exercise-induced muscle fatigue
HP:0002067 
Bradykinesia
HP:0012751 
Abnormal basal ganglia MRI signal intensity
HP:0003355 
Aminoaciduria
HP:0012450 
Chronic constipation
HP:0011834 
Moyamoya phenomenon
HP:0001297 
Stroke
HP:0200049 
Upper limb hypertonia
HP:0008981 
Calf muscle hypertrophy
HP:0006785 
Limb-girdle muscular dystrophy
HP:0006957 
Loss of ability to walk
HP:0030098 
Reduced muscle dystrophin expression
HP:0030115 
Reduced muscle fiber dysferlin
HP:0002058 
Myopathic facies
HP:0007858 
Chorioretinal lacunae
HP:0006657 
Hypoplasia of first ribs
HP:0007165 
Periventricular heterotopia
HP:0009779 
3-4 toe syndactyly
HP:0010665 
Bilateral coxa valga
HP:0007598 
Bilateral single transverse palmar creases
HP:0006101 
Finger syndactyly
HP:0010511 
Long toe
HP:0002370 
Poor coordination
HP:0000480 
Retinal coloboma
HP:0001770 
Toe syndactyly
HP:0010851 
EEG with burst suppression
HP:0002791 
Hypoventilation
HP:0040075 
Hypopituitarism
HP:0012506 
Small pituitary gland
HP:0000538 
Pseudopapilledema
HP:0012717 
Severe conductive hearing impairment
HP:0001370 
Rheumatoid arthritis
HP:0000016 
Urinary retention
HP:0012537 
Food intolerance
HP:0011297 
Abnormal digit morphology
HP:0001273 
Abnormal corpus callosum morphology
HP:0030148 
Heart murmur
HP:0045018 
Partial duplication of eyebrows
HP:0008998 
Pectoralis hypoplasia
HP:0001707 
Abnormal right ventricle morphology
HP:0001540 
Diastasis recti
HP:0100693 
Iridodonesis
HP:0002265 
Large fleshy ears
HP:0001132 
Lens subluxation
HP:0004927 
Pulmonary artery dilatation
HP:0005619 
Thoracolumbar kyphosis
HP:0008619 
Bilateral sensorineural hearing impairment
HP:0001045 
Vitiligo
HP:0009124 
Abnormal adipose tissue morphology
HP:0002979 
Bowing of the legs
HP:0000455 
Broad nasal tip
HP:0001007 
Hirsutism
HP:0010314 
Premature thelarche
HP:0000075 
Renal duplication
HP:0000368 
Low-set, posteriorly rotated ears
HP:0001052 
Nevus flammeus
HP:0200048 
Cyanotic episode
HP:0001902 
Giant platelets
HP:0030043 
Hip subluxation
HP:0002938 
Lumbar hyperlordosis
HP:0030084 
Clinodactyly
HP:0005560 
Imbalanced hemoglobin synthesis
HP:0001539 
Omphalocele
HP:0009778 
Short thumb
HP:0002277 
Horner syndrome
HP:0011701 
Multifocal atrial tachycardia
HP:0005274 
Prominent nasal tip
HP:0001262 
Excessive daytime somnolence
HP:0001285 
Spastic tetraparesis
HP:0012171 
Stereotypical hand wringing
HP:0002518 
Abnormality of the periventricular white matter
HP:0005692 
Joint hyperflexibility
HP:0007440 
Generalized hyperpigmentation
HP:0001805 
Onychogryposis
HP:0011945 
Bronchiolitis obliterans organizing pneumonia
HP:0003763 
Bruxism
HP:0010500 
Hyperextensibility of the knee
HP:0040115 
Abnormality of the Eustachian tube
HP:0008751 
Laryngeal cleft
HP:0000403 
Recurrent otitis media
HP:0001787 
Abnormal delivery
HP:0002571 
Achalasia
HP:0002615 
Hypotension
HP:0003550 
Predominantly lower limb lymphedema
HP:0030363 
Primary Caesarian section
HP:0001727 
Thromboembolic stroke
HP:0100603 
Toxemia of pregnancy
HP:0010836 
Abnormal circulating copper concentration
HP:0000356 
Abnormality of the outer ear
HP:0002197 
Generalized-onset seizure
HP:0011436 
Abnormal maternal serum screening
HP:0003517 
Birth length greater than 97th percentile
HP:0003561 
Birth length less than 3rd percentile
HP:0012188 
Hyperemesis gravidarum
HP:0010519 
Increased fetal movement
HP:0030244 
Maternal fever in pregnancy
HP:0008071 
Maternal hypertension
HP:0100622 
Maternal seizure
HP:0011438 
Maternal teratogenic exposure
HP:0001998 
Neonatal hypoglycemia
HP:0040187 
Neonatal sepsis
HP:0002033 
Poor suck
HP:0006579 
Prolonged neonatal jaundice
HP:0001724 
obsolete Aortic dilatation
HP:0010621 
Cutaneous syndactyly of toes
HP:0001880 
Eosinophilia
HP:0000162 
Glossoptosis
HP:0100578 
Lipoatrophy
HP:0002562 
Low-set nipples
HP:0012893 
Neck muscle hypertrophy
HP:0001027 
Soft, doughy skin
HP:0100738 
Abnormal eating behavior
HP:0007328 
Impaired pain sensation
HP:0002878 
Respiratory failure
HP:0001776 
Bilateral talipes equinovarus
HP:0001360 
Holoprosencephaly
HP:0001973 
Autoimmune thrombocytopenia
HP:0100749 
Chest pain
HP:0012531 
Pain
HP:0007585 
Skin fragility with non-scarring blistering
HP:0002108 
Spontaneous pneumothorax
HP:0006562 
Viral hepatitis
HP:0012647 
Abnormal inflammatory response
HP:0012088 
Abnormal urinary odor
HP:0011458 
Abdominal symptom
HP:0002829 
Arthralgia
HP:0010783 
Erythema
HP:0010307 
Stridor
HP:0001269 
Hemiparesis
HP:0006532 
Recurrent pneumonia
HP:0002580 
Volvulus
HP:0012387 
Bronchitis
HP:0001266 
Choreoathetosis
HP:0001531 
Failure to thrive in infancy
HP:0011470 
Nasogastric tube feeding in infancy
HP:0001361 
Nystagmus-induced head nodding
HP:0001997 
Gout
HP:0000965 
Cutis marmorata
HP:0010316 
Ebstein anomaly of the tricuspid valve
HP:0010543 
Opsoclonus
HP:0007704 
Paroxysmal involuntary eye movements
HP:0030364 
Secondary Caesarian section
HP:0007738 
Uncontrolled eye movements
HP:0030366 
Delivery by Odon device
HP:0011411 
Forceps delivery
HP:0030369 
Induced vaginal delivery
HP:0005268 
Spontaneous abortion
HP:0030365 
Vaginal birth after Caesarian
HP:0011412 
Ventouse delivery
HP:0002572 
Episodic vomiting
HP:0030350 
Erythematous papule
HP:0001386 
Joint swelling
HP:0000147 
Polycystic ovaries
HP:0012412 
Premature adrenarche
HP:0004411 
Deviated nasal septum
HP:0040183 
Encopresis
HP:0100507 
Reduced blood folate concentration
HP:0007011 
Fourth cranial nerve palsy
HP:0000375 
Abnormal cochlea morphology
HP:0009911 
Abnormal temporal bone morphology
HP:0000081 
Duplicated collecting system
HP:0006894 
Hypoplastic olfactory lobes
HP:0011380 
Morphological abnormality of the semicircular canal
HP:0000110 
Renal dysplasia
HP:0030025 
Auricular pit
HP:0010044 
Short 4th metacarpal
HP:0010047 
Short 5th metacarpal
HP:0000201 
Pierre-Robin sequence
HP:0100837 
Atrophodermia vermiculata
HP:0002673 
Coxa valga
HP:0001476 
Delayed closure of the anterior fontanelle
HP:0011069 
Increased number of teeth
HP:0009879 
Simplified gyral pattern
HP:0006315 
Single median maxillary incisor
HP:0001194 
Abnormalities of placenta or umbilical cord
HP:0100767 
Abnormal placenta morphology
HP:0006543 
Cardiorespiratory arrest
HP:0003074 
Hyperglycemia
HP:0000842 
Hyperinsulinemia
HP:0011951 
Aspiration pneumonia
HP:0006528 
Chronic lung disease
HP:0002383 
Encephalitis
HP:0000388 
Otitis media
HP:0002530 
Axial dystonia
HP:0002780 
Bronchomalacia
HP:0008755 
Laryngotracheomalacia
HP:0000308 
Microretrognathia
HP:0002786 
Tracheobronchomalacia
HP:0012389 
Appendicular hypotonia
HP:0011323 
Cleft of chin
HP:0000417 
Slender nose
HP:0001863 
Toe clinodactyly
HP:0008386 
Aplasia/Hypoplasia of the nails
HP:0006989 
Dysplastic corpus callosum
HP:0100954 
Open operculum
HP:0004482 
Relative macrocephaly
HP:3000033 
Abnormal nasopharyngeal adenoid morphology
HP:0009062 
Infantile axial hypotonia
HP:0002189 
obsolete Excessive daytime sleepiness
HP:0002141 
Gait imbalance
HP:0012734 
Ketotic hypoglycemia
HP:0005968 
Temperature instability
HP:0012538 
Gluten intolerance
HP:0000979 
Purpura
HP:0001988 
Recurrent hypoglycemia
HP:0001488 
Bilateral ptosis
HP:0011229 
Broad eyebrow
HP:0004440 
Coronal craniosynostosis
HP:0004453 
Overfolding of the superior helices
HP:0012547 
Abnormal involuntary eye movements
HP:0100814 
Blue nevus
HP:0010751 
Dimple chin
HP:0007087 
obsolete Involuntary jerking movements
HP:0012498 
Nuchal cord
HP:0002472 
Small cerebral cortex
HP:0100307 
Cerebellar hemisphere hypoplasia
HP:0002151 
Increased serum lactate
HP:0001698 
Pericardial effusion
HP:0006903 
Congenital peripheral neuropathy
HP:0006895 
Lower limb hypertonia
HP:0002744 
Bilateral cleft lip and palate
HP:0010664 
Fusion of the left and right thalami
HP:0000327 
Hypoplasia of the maxilla
HP:0000474 
Thickened nuchal skin fold
HP:0000105 
Enlarged kidney
HP:0000113 
Polycystic kidney dysplasia
HP:0000104 
Renal agenesis
HP:0001362 
Calvarial skull defect
HP:0008245 
Pituitary hypothyroidism
HP:0001552 
Barrel-shaped chest
HP:0006297 
Hypoplasia of dental enamel
HP:0100023 
Recurrent hand flapping
HP:0005518 
Increased mean corpuscular volume
HP:0012418 
Hypoxemia
HP:0100259 
Postaxial polydactyly
HP:0010814 
Abnormal position of hair whorl
HP:0003764 
Nevus
HP:0000445 
Wide nose
HP:0010677 
Enuresis nocturna
HP:0001510 
Growth delay
HP:0012428 
Prominent calcaneus
HP:0012471 
Thick vermilion border
HP:0007110 
Central hypoventilation
HP:0010614 
Fibroma
HP:0001034 
Hypermelanotic macule
HP:0011365 
Patchy hypopigmentation of hair
HP:0001920 
Renal artery stenosis
HP:0002828 
Multiple joint contractures
HP:0002144 
Tethered cord
HP:0010964 
Abnormal circulating long-chain fatty-acid concentration
HP:0010536 
Central sleep apnea
HP:0011262 
Crimped helix
HP:0040079 
Irregular dentition
HP:0011481 
Abnormal lacrimal duct morphology
HP:0000220 
Velopharyngeal insufficiency
HP:0002153 
Hyperkalemia
HP:0002148 
Hypophosphatemia
HP:0012621 
Persistent cloaca
HP:0000867 
Secondary hyperparathyroidism
HP:0003762 
Uterus didelphys
HP:0100512 
Low levels of vitamin D
HP:0012156 
Hemophagocytosis
HP:0008209 
Premature ovarian insufficiency
HP:0004349 
Reduced bone mineral density
HP:0001924 
Sideroblastic anemia
HP:0011703 
Sinus tachycardia
HP:0010609 
Skin tags
HP:0002725 
Systemic lupus erythematosus
HP:0003193 
Allergic rhinitis
HP:0006896 
Hypnopompic hallucinations
HP:0002524 
Cataplexy
HP:0005227 
Adenomatous colonic polyposis
HP:0012173 
Orthostatic tachycardia
HP:0001271 
Polyneuropathy
HP:0009120 
Aplasia/Hypoplasia involving the sinuses
HP:0000625 
Eyelid coloboma
HP:0009754 
Fibrous syngnathia
HP:0012478 
Temporomandibular joint ankylosis
HP:0001233 
2-3 finger syndactyly
HP:0000811 
Abnormal external genitalia
HP:0005120 
Abnormal cardiac atrium morphology
HP:0008388 
Abnormal toenail morphology
HP:0011467 
Absent gallbladder
HP:0010760 
Absent toe
HP:0001545 
Anteriorly placed anus
HP:0001640 
Cardiomegaly
HP:0002990 
Fibular aplasia
HP:0004443 
Lambdoidal craniosynostosis
HP:0008569 
Microtia, second degree
HP:0006277 
Pancreatic hyperplasia
HP:0010445 
Primum atrial septal defect
HP:0011640 
Single coronary artery origin
HP:0011608 
Type II truncus arteriosus
HP:0011327 
Posterior plagiocephaly
HP:0007655 
Eversion of lateral third of lower eyelids
HP:0010747 
Medial flaring of the eyebrow
HP:0005957 
Breathing dysregulation
HP:0000992 
Cutaneous photosensitivity
HP:0011995 
Atrial septal dilatation
HP:0000377 
Abnormality of the pinna
HP:0011266 
Microtia, first degree
HP:0012650 
Perisylvian polymicrogyria
HP:0004970 
Ascending tubular aorta aneurysm
HP:0008348 
Decreased circulating IgG2 level
HP:0012115 
Hepatitis
HP:0006979 
Sleep-wake cycle disturbance
HP:0008587 
Mild neurosensory hearing impairment
HP:0006097 
3-4 finger syndactyly
HP:0005263 
Gastritis
HP:0200043 
Verrucae
HP:0009600 
Flexion contracture of thumb
HP:0010818 
Generalized tonic seizure
HP:0002599 
Head titubation
HP:0002090 
Pneumonia
HP:0030423 
Splenic cyst
HP:0030187 
Titubation
HP:0002375 
Hypokinesia
HP:0007166 
Paroxysmal dyskinesia
HP:0003077 
Hyperlipidemia
HP:0000017 
Nocturia
HP:0100555 
Asymmetric growth
HP:0011847 
Giant cell tumor of bone
HP:0000112 
Nephropathy
HP:0000246 
Sinusitis
HP:0001012 
Multiple lipomas
HP:0000851 
Congenital hypothyroidism
HP:0002345 
Action tremor
HP:0002677 
Small foramen magnum
HP:0011947 
Respiratory tract infection
HP:0012151 
Hemothorax
HP:0005988 
Congenital muscular torticollis
HP:0002329 
Drowsiness
HP:0012395 
Seasonal allergy
HP:0011679 
Tetralogy of Fallot with pulmonary stenosis
HP:0001864 
Clinodactyly of the 5th toe
HP:0006934 
Congenital nystagmus
HP:0100355 
Contractures of the distal interphalangeal joint of the 5th toe
HP:0007894 
Hypopigmentation of the fundus
HP:0012377 
Hemianopia
HP:0002354 
Memory impairment
HP:0000872 
Hashimoto thyroiditis
HP:0002519 
Hypnagogic hallucinations
HP:0010647 
Abnormal elasticity of skin
HP:0002592 
Gastric ulcer
HP:0004938 
Tortuous cerebral arteries
HP:0004948 
Vascular tortuosity
HP:0002516 
Increased intracranial pressure
HP:0006460 
Increased laxity of ankles
HP:0002317 
Unsteady gait
HP:0000182 
Movement abnormality of the tongue
HP:0009887 
Abnormality of hair pigmentation
HP:0005824 
Clinodactyly of the 2nd toe
HP:0002212 
Curly hair
HP:0009803 
Short phalanx of finger
HP:0000572 
Visual loss
HP:0005216 
Impaired mastication
HP:0000619 
Impaired convergence
HP:0002403 
Positive Romberg sign
HP:0008744 
Abnormal aryepiglottic fold morphology
HP:0002374 
Diminished movement
HP:0008277 
Abnormal blood zinc concentration
HP:0012781 
Mid-frequency hearing loss
HP:0100758 
Gangrene
HP:0003256 
Abnormality of the coagulation cascade
HP:0004387 
Enterocolitis
HP:0011029 
Internal hemorrhage
HP:0011649 
Patent ductus arteriosus after premature birth
HP:0012050 
Anasarca
HP:0001683 
Ectopia cordis
HP:0011682 
Perimembranous ventricular septal defect
HP:0010624 
Aplastic/hypoplastic toenail
HP:0002705 
High, narrow palate
HP:0011340 
Incomplete cleft of the upper lip
HP:0011613 
Interrupted aortic arch type B
HP:0006167 
Prominent proximal interphalangeal joints
HP:0002918 
Hypermagnesemia
HP:0011937 
Hypoplastic fifth toenail
HP:0001067 
Neurofibromas
HP:0011403 
Abnormal umbilical cord blood vessels
HP:0003316 
Butterfly vertebrae
HP:0002247 
Duodenal atresia
HP:0008439 
Lumbar hemivertebrae
HP:0011599 
Mesocardia
HP:0008467 
Thoracic hemivertebrae
HP:0004626 
Lumbar scoliosis
HP:0006808 
Cerebral hypomyelination
HP:0002926 
Abnormality of thyroid physiology
HP:0007970 
Congenital ptosis
HP:0030853 
Heterotaxy
HP:0010772 
Anomalous pulmonary venous return
"},"url":"http://purl.obolibrary.org/obo/hp.owl","version":"0.2.0","name":"HPO","title":"Human Phenotype Ontology","status":"draft","experimental":false,"date":"2023-08-08T19:23:30+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"The Human Phenotype Ontology (HPO) provides a standardized vocabulary of phenotypic abnormalities encountered in human disease. Please see license of HPO at http://www.human-phenotype-ontology.org","valueSet":"http://fhir.ncpi-project-forge.io/ValueSet/phenotype-codes","hierarchyMeaning":"is-a","compositional":false,"versionNeeded":false,"content":"fragment","count":1880,"filter":[{"code":"root","operator":["="],"value":"True or false."},{"code":"deprecated","operator":["="],"value":"True or false."},{"code":"imported","operator":["="],"value":"True or false"}],"property":[{"code":"parent","description":"Parent codes.","type":"code"},{"code":"imported","description":"Indicates if the concept is imported from another code system.","type":"boolean"},{"code":"root","description":"Indicates if this concept is a root concept (i.e. Thing is equivalent or a direct parent)","type":"boolean"},{"code":"deprecated","description":"Indicates if this concept is deprecated.","type":"boolean"}],"concept":[{"code":"HP:0000365","display":"Hearing impairment"},{"code":"HP:0002564","display":"obsolete Malformation of the heart and great vessels"},{"code":"HP:0001028","display":"Hemangioma"},{"code":"HP:0000476","display":"Cystic hygroma"},{"code":"HP:0000568","display":"Microphthalmia"},{"code":"HP:0000518","display":"Cataract"},{"code":"HP:0000612","display":"Iris coloboma"},{"code":"HP:0000567","display":"Chorioretinal coloboma"},{"code":"HP:0000316","display":"Hypertelorism"},{"code":"HP:0000482","display":"Microcornea"},{"code":"HP:0000588","display":"Optic nerve coloboma"},{"code":"HP:0004426","display":"Abnormality of the cheek"},{"code":"HP:0009125","display":"Lipodystrophy"},{"code":"HP:0002023","display":"Anal atresia"},{"code":"HP:0003468","display":"Abnormal vertebral morphology"},{"code":"HP:0000545","display":"Myopia"},{"code":"HP:0000122","display":"Unilateral renal agenesis"},{"code":"HP:0002143","display":"Abnormality of the spinal cord"},{"code":"HP:0003508","display":"Proportionate short stature"},{"code":"HP:0000271","display":"Abnormality of the face"},{"code":"HP:0000637","display":"Long palpebral fissure"},{"code":"HP:0000492","display":"Abnormal eyelid morphology"},{"code":"HP:0000389","display":"Chronic otitis media"},{"code":"HP:0000400","display":"Macrotia"},{"code":"HP:0000405","display":"Conductive hearing impairment"},{"code":"HP:0012712","display":"Mild hearing impairment"},{"code":"HP:0005280","display":"Depressed nasal bridge"},{"code":"HP:0000431","display":"Wide nasal bridge"},{"code":"HP:0000319","display":"Smooth philtrum"},{"code":"HP:0000175","display":"Cleft palate"},{"code":"HP:0001611","display":"Nasal speech"},{"code":"HP:0002099","display":"Asthma"},{"code":"HP:0001397","display":"Hepatic steatosis"},{"code":"HP:0001081","display":"Cholelithiasis"},{"code":"HP:0002650","display":"Scoliosis"},{"code":"HP:0001212","display":"Prominent fingertip pads"},{"code":"HP:0001328","display":"Specific learning disability"},{"code":"HP:0000824","display":"Growth hormone deficiency"},{"code":"HP:0002607","display":"Bowel incontinence"},{"code":"HP:0100731","display":"Transverse facial cleft"},{"code":"HP:0000528","display":"Anophthalmia"},{"code":"HP:0000601","display":"Hypotelorism"},{"code":"HP:0000369","display":"Low-set ears"},{"code":"HP:0001274","display":"Agenesis of corpus callosum"},{"code":"HP:0002084","display":"Encephalocele"},{"code":"HP:0007033","display":"Cerebellar dysplasia"},{"code":"HP:0100336","display":"Bilateral cleft lip"},{"code":"HP:0100337","display":"Bilateral cleft palate"},{"code":"HP:0001511","display":"Intrauterine growth retardation"},{"code":"HP:0011451","display":"Congenital microcephaly"},{"code":"HP:0000324","display":"Facial asymmetry"},{"code":"HP:0000581","display":"Blepharophimosis"},{"code":"HP:0000508","display":"Ptosis"},{"code":"HP:0008551","display":"Microtia"},{"code":"HP:0001631","display":"Atrial septal defect"},{"code":"HP:0000085","display":"Horseshoe kidney"},{"code":"HP:0011927","display":"Short 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loss"},{"code":"HP:0005216","display":"Impaired mastication"},{"code":"HP:0000619","display":"Impaired convergence"},{"code":"HP:0002403","display":"Positive Romberg sign"},{"code":"HP:0008744","display":"Abnormal aryepiglottic fold morphology"},{"code":"HP:0002374","display":"Diminished movement"},{"code":"HP:0008277","display":"Abnormal blood zinc concentration"},{"code":"HP:0012781","display":"Mid-frequency hearing loss"},{"code":"HP:0100758","display":"Gangrene"},{"code":"HP:0003256","display":"Abnormality of the coagulation cascade"},{"code":"HP:0004387","display":"Enterocolitis"},{"code":"HP:0011029","display":"Internal hemorrhage"},{"code":"HP:0011649","display":"Patent ductus arteriosus after premature birth"},{"code":"HP:0012050","display":"Anasarca"},{"code":"HP:0001683","display":"Ectopia cordis"},{"code":"HP:0011682","display":"Perimembranous ventricular septal defect"},{"code":"HP:0010624","display":"Aplastic/hypoplastic toenail"},{"code":"HP:0002705","display":"High, 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ptosis"},{"code":"HP:0030853","display":"Heterotaxy"},{"code":"HP:0010772","display":"Anomalous pulmonary venous return"}]}},{"name":"tx-resource","resource":{"resourceType":"CodeSystem","id":"mondo","text":{"status":"generated","div":"
This code system http://purl.obolibrary.org/obo/mondo.owl provides a fragment that includes following codes:
Code
Display
MONDO:0005072 
neuroblastoma
MONDO:0002749 
extracranial neuroblastoma
MONDO:0008542 
tetralogy of fallot
MONDO:0016054 
cerebral malformation
MONDO:0016033 
Cornelia de Lange syndrome
MONDO:0007130 
congenital total pulmonary venous return anomaly
MONDO:0017705 
congenital pulmonary venous return anomaly
"},"url":"http://purl.obolibrary.org/obo/mondo.owl","version":"0.2.0","name":"Mondo","title":"Mondo Disease Ontology","status":"draft","experimental":false,"date":"2023-08-08T19:23:30+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"The Mondo Disease Ontology (Mondo) aims to harmonize disease definitions across the world. The name Mondo comes from the latin word 'mundus' and means 'for the world.'","caseSensitive":true,"content":"fragment","count":3,"concept":[{"code":"MONDO:0005072","display":"neuroblastoma"},{"code":"MONDO:0002749","display":"extracranial neuroblastoma"},{"code":"MONDO:0008542","display":"tetralogy of fallot"},{"code":"MONDO:0016054","display":"cerebral malformation"},{"code":"MONDO:0016033","display":"Cornelia de Lange syndrome"},{"code":"MONDO:0007130","display":"congenital total pulmonary venous return anomaly"},{"code":"MONDO:0017705","display":"congenital pulmonary venous return anomaly"}]}},{"name":"valueSet","resource":{"resourceType":"ValueSet","id":"datatable-mappings-valueset-1","text":{"status":"generated","div":"
This value set includes codes based on the following rules:
Include these codes as defined in https://uts.nlm.nih.gov/uts/umls
Code
Display
C2348584
Subject Unique Identifier
C0079399
Gender
C168843
Age in Days at Enrollment
C1305855
Body mass index
C0872128
case control
Include these codes as defined in http://loinc.org
Code
Display
LP35925-4
Body mass index (BMI)
Include these codes as defined in http://purl.obolibrary.org/obo/hp.owl
Code
Display
HP:0010772
Anomalous pulmonary venous return
Include these codes as defined in http://purl.obolibrary.org/obo/mondo.owl
Code
Display
MONDO:0017705
congenital pulmonary venous return anomaly
MONDO:0007130
congenital total pulmonary venous return anomaly
"},"url":"https://nih-ncpi.github.io/ncpi-fhir-ig/ValueSet/datatable-mappings-valueset-1","version":"0.2.0","name":"ExampleStudyTableMappingsVS1","title":"Harmonized ValueSet for data table","status":"active","date":"2023-08-08T19:23:30+00:00","publisher":"NCPI FHIR Working Group","contact":[{"name":"NCPI FHIR Working Group","telecom":[{"system":"url","value":"https://github.com/nih-ncpi"}]},{"name":"Meen Chul Kim","telecom":[{"system":"email","value":"meenchul@d3b.center","use":"work"}]}],"description":"Public codes mapped from example dataset\n\nThe codes used below were chosen purely for example's sake and are in no way an endorsement or suggestion for terms that should be used in a real data-dictionary.","compose":{"include":[{"system":"https://uts.nlm.nih.gov/uts/umls","concept":[{"code":"C2348584","display":"Subject Unique Identifier"},{"code":"C0079399","display":"Gender"},{"code":"C168843","display":"Age in Days at Enrollment"},{"code":"C1305855","display":"Body mass index"},{"code":"C0872128","display":"case control"}]},{"system":"http://loinc.org","concept":[{"code":"LP35925-4","display":"Body mass index (BMI)"}]},{"system":"http://purl.obolibrary.org/obo/hp.owl","concept":[{"code":"HP:0010772","display":"Anomalous pulmonary venous return"}]},{"system":"http://purl.obolibrary.org/obo/mondo.owl","concept":[{"code":"MONDO:0017705","display":"congenital pulmonary venous return anomaly"},{"code":"MONDO:0007130","display":"congenital total pulmonary venous return anomaly"}]}]}}},{"name":"_limit","valueString":"1000"},{"name":"_incomplete","valueString":"true"}]}


Response: 

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content-length:373
content-type:application/fhir+json
date:Tue, 08 Aug 2023 19:25:20 GMT
server:nginx
x-request-id:18-360707

{"resourceType" : "OperationOutcome","text" : {"status" : "generated","div" : "
Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls
"},"issue" : [{"severity" : "error","code" : "not-supported","details" : {"text" : "Unable to provide support for code system https://uts.nlm.nih.gov/uts/umls"}}]}