Condition Inheritance Pattern

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ValueSet

Value Set für spezifische Übertragungsmuster einer Krankheit in einem Stammbaum.

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

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

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ValueSet 'ConditionInheritanceModeVS'

Version	2.0.0
Published by	HL7 Clinical Genomics Working Group
Status	Active (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
  
  

  Code	Display
  0000143	Codominant inheritance
  0000889	Unknown inheritance
  0000892	Mitochondrial inheritance (primarily or exclusively heteroplasmic)
  0000893	Mitochondrial inheritance (primarily or exclusively homoplasmic)

• The following codes from system: http://hpo.jax.org/app/
  
  

  Code	Display
  0000006	Autosomal dominant inheritance
  0000007	Autosomal recessive inheritance
  0001417	X-linked inheritance
  0001419	X-linked inheritance (recessive)
  0001423	X-linked inheritance (dominant)
  0001426	Multifactorial inheritance
  0001427	Mitochondrial inheritance
  0001428	Somatic mutation
  0001450	Y-linked inheritance
  0001470	Autosomal dominant inheritance (sex-limited)
  0003743	Genetic anticipation
  0003745	Sporadic
  0010983	Oligogenic
  0012274	Autosomal dominant inheritance (with paternal imprinting)
  0012275	Autosomal dominant inheritance (with maternal imprinting)
  0025352	Autosomal dominant inheritance (primarily or exclusively de novo)
  0031362	Autosomal recessive inheritance (sex-limited)

• The following codes from system: http://purl.obolibrary.org/obo/sepio-clingen
  
  

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

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