Condition Inheritance Pattern


ValueSet

Value Set f├╝r spezifische ├ťbertragungsmuster einer Krankheit in einem Stammbaum.

Canonical: http://hl7.org/fhir/uv/genomics-reporting/ValueSet/condition-inheritance-mode-vs


Das ValueSet Condition Inheritance Patterns stammt aus HL7 Genomics Reporting Implementation Guide.


ValueSet 'ConditionInheritanceModeVS'

Version2.0.0
Published byHL7 Clinical Genomics Working Group
StatusActive (since 2022-05-09T16:53:07+00:00)

Value Set for specific transmission patterns of a condition in a pedigree

Contact Information

HL7 Clinical Genomics Working Group

Website: http://www.hl7.org/Special/com...

Email: cg@lists.HL7.org

This value set includes codes from the following code systems:

  • The following codes from system: http://www.ebi.ac.uk/ols/ontologies/geno

    CodeDisplay
    0000143Codominant inheritance
    0000889Unknown inheritance
    0000892Mitochondrial inheritance (primarily or exclusively heteroplasmic)
    0000893Mitochondrial inheritance (primarily or exclusively homoplasmic)
  • The following codes from system: http://hpo.jax.org/app/

    CodeDisplay
    0000006Autosomal dominant inheritance
    0000007Autosomal recessive inheritance
    0001417X-linked inheritance
    0001419X-linked inheritance (recessive)
    0001423X-linked inheritance (dominant)
    0001426Multifactorial inheritance
    0001427Mitochondrial inheritance
    0001428Somatic mutation
    0001450Y-linked inheritance
    0001470Autosomal dominant inheritance (sex-limited)
    0003743Genetic anticipation
    0003745Sporadic
    0010983Oligogenic
    0012274Autosomal dominant inheritance (with paternal imprinting)
    0012275Autosomal dominant inheritance (with maternal imprinting)
    0025352Autosomal dominant inheritance (primarily or exclusively de novo)
    0031362Autosomal recessive inheritance (sex-limited)
  • The following codes from system: http://purl.obolibrary.org/obo/sepio-clingen

    CodeDisplay
    97020Semidominant inheritance
    97021X-linked inheritance (primarily recessive with milder female expression)
    97022Autosomal dominant inheritance (with genetic anticipation)
    97023Autosomal recessive inheritance (with genetic anticipation)