Autosomal Dominant Disorder

Preferred Label : Autosomal Dominant Disorder;

NCIt definition : An inherited disorder that manifests when one copy of a mutated gene is present.;

Details

Origin ID

C98829;

UMLS CUI

C3899989;

CISMeF manual mappings
- autosomal dominant disorder [Disease (Nov.)]
Currated CISMeF NLP mapping
- Autosomal dominant hereditary disorder (disorder) [SNOMED CT concept]
- dominant hereditary disorder, nos [SNOMED Notion]
Manual NTBT mappings (CISMeF)
- autosomal disorder [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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