Autosomal Recessive Disorder

Preferred Label : Autosomal Recessive Disorder;

NCIt definition : An inherited disorder manifested only when two copies of a mutated gene are present.;

Details

Origin ID

C85866;

UMLS CUI

C3899988;

Automatic exact mappings (from CISMeF team)
- Aortic valve insufficiency [ICD-11 Category]
- Arising in (attribute) [SNOMED CT concept]
- Autosomal recessive inheritance (qualifier value) [SNOMED CT concept]
- Autosomal systemic lupus erythematosus [ORDO Disease]
- androgen receptor [ORDO Gene]
- drug evaluation [MeSH concept]
- drug evaluation [MeSH Descriptor]
- drug evaluation [CISMeF resources Type]
CISMeF manual mappings
- autosomal recessive disorder [Disease (Nov.)]
Currated CISMeF NLP mapping
- Autosomal recessive hereditary disorder (disorder) [SNOMED CT concept]
- recessive hereditary disorder, nos [SNOMED Notion]
Manual NTBT mappings (CISMeF)
- autosomal disorder [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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