Cqgc Implementation Guide
0.1.0 - CI Build

Cqgc Implementation Guide - Local Development build (v0.1.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions

ValueSet: Ferlab.bio ValueSet/polym-default-hpo

Official URL: http://fhir.cqgc.ferlab.bio/ValueSet/polym-default-hpo Version: 0.1.0
Active as of 2025-03-31 Computable Name: polym-default-hpo

Polymalformation default clinical signs (HPO code)

References

This value set is not used here; it may be used elsewhere (e.g. specifications and/or implementations that use this content)

Logical Definition (CLD)

  • Include these codes as defined in http://purl.obolibrary.org/obo/hp.owl
    CodeDisplayFrench (fr)
    HP:0000252MicrocephalyMicrocéphalie
    HP:0000256MacrocephalyMacrocéphalie
    HP:0000175Cleft palateFente palatine
    HP:0001320Cerebellar vermis hypoplasiaHypoplasie du vermis cérébelleux
    HP:0001305Dandy-Walker malformationMalformation de Dandy-Walker
    HP:0002539Cortical dysplasiaDysplasie du cortex cérébral
    HP:0001710Conotruncal heart defectsAnomalie conotroncale
    HP:0001750Single ventricleCoeur univentriculaire
    HP:0001642Pulmonic stenosisSténose pulmonaire
    HP:0001629Ventricular septal defectCommunication interventriculaire
    HP:0002032Esophageal atresiaAtrésie de l'oesophage
    HP:0000104Renal agenesisAgénésie rénale
    HP:0000047HypospadiasHypospadias
    HP:0002652Skeletal dysplasiaDysplasie squelettique
    HP:0100258Preaxial polydactylyPolydactylie pré-axiale
    HP:0100259Postaxial polydactylyPolydactylie post-axiale
    HP:0410049Abnormal radial ray morphologyAnomalie du rayon radial
    HP:0004322Short staturePetite taille
    HP:0001520Large for gestational ageMacrosomie

 

Expansion

Expansion from tx.ontoserver.csiro.au based on codesystem hp.owl version20221005

This value set contains 19 concepts

CodeSystemDisplay (en-US)
  HP:0000252http://purl.obolibrary.org/obo/hp.owlMicrocephaly
  HP:0000256http://purl.obolibrary.org/obo/hp.owlMacrocephaly
  HP:0000175http://purl.obolibrary.org/obo/hp.owlCleft palate
  HP:0001320http://purl.obolibrary.org/obo/hp.owlCerebellar vermis hypoplasia
  HP:0001305http://purl.obolibrary.org/obo/hp.owlDandy-Walker malformation
  HP:0002539http://purl.obolibrary.org/obo/hp.owlCortical dysplasia
  HP:0001710http://purl.obolibrary.org/obo/hp.owlConotruncal defect
  HP:0001750http://purl.obolibrary.org/obo/hp.owlSingle ventricle
  HP:0001642http://purl.obolibrary.org/obo/hp.owlPulmonic stenosis
  HP:0001629http://purl.obolibrary.org/obo/hp.owlVentricular septal defect
  HP:0002032http://purl.obolibrary.org/obo/hp.owlEsophageal atresia
  HP:0000104http://purl.obolibrary.org/obo/hp.owlRenal agenesis
  HP:0000047http://purl.obolibrary.org/obo/hp.owlHypospadias
  HP:0002652http://purl.obolibrary.org/obo/hp.owlSkeletal dysplasia
  HP:0100258http://purl.obolibrary.org/obo/hp.owlPreaxial polydactyly
  HP:0100259http://purl.obolibrary.org/obo/hp.owlPostaxial polydactyly
  HP:0410049http://purl.obolibrary.org/obo/hp.owlAbnormal radial ray morphology
  HP:0004322http://purl.obolibrary.org/obo/hp.owlShort stature
  HP:0001520http://purl.obolibrary.org/obo/hp.owlLarge for gestational age

Explanation of the columns that may appear on this page:

Level A few code lists that FHIR defines are hierarchical - each code is assigned a level. In this scheme, some codes are under other codes, and imply that the code they are under also applies
System The source of the definition of the code (when the value set draws in codes defined elsewhere)
Code The code (used as the code in the resource instance)
Display The display (used in the display element of a Coding). If there is no display, implementers should not simply display the code, but map the concept into their application
Definition An explanation of the meaning of the concept
Comments Additional notes about how to use the code