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: Normal genome default clinical signs (HPO code)

Official URL: http://fhir.cqgc.ferlab.bio/ValueSet/genor-default-hpo Version: 0.1.0
Active as of 2025-07-03 Computable Name: genor-default-hpo

Normal genome 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:0000750Delayed speech and language developmentRetard développemental du langage et de la parole
    HP:0001250SeizureEpilépsie
    HP:0001252HypotoniaHypotonie musculaire
    HP:0001263Global developmental delayRetard de développement global
    HP:0001290Generalized hypotoniaHypotonie généralisée
    HP:0001319Neonatal hypotoniaHypotonie néonatale
    HP:0001508Failure to thriveRetard de croissance post-natal
    HP:0001511Intrauterine growth retardationRetard de croissance intra-utérin

 

Expansion

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

This value set contains 9 concepts

CodeSystemDisplay (en-US)
  HP:0000252http://purl.obolibrary.org/obo/hp.owlMicrocephaly
  HP:0000750http://purl.obolibrary.org/obo/hp.owlDelayed speech and language development
  HP:0001250http://purl.obolibrary.org/obo/hp.owlSeizure
  HP:0001252http://purl.obolibrary.org/obo/hp.owlHypotonia
  HP:0001263http://purl.obolibrary.org/obo/hp.owlGlobal developmental delay
  HP:0001290http://purl.obolibrary.org/obo/hp.owlGeneralized hypotonia
  HP:0001319http://purl.obolibrary.org/obo/hp.owlNeonatal hypotonia
  HP:0001508http://purl.obolibrary.org/obo/hp.owlFailure to thrive
  HP:0001511http://purl.obolibrary.org/obo/hp.owlIntrauterine growth retardation

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