Complete Androgen Insensitivity Syndrome

Preferred Label : Complete Androgen Insensitivity Syndrome;

NCIt synonyms : CAIS;

NCIt definition : A genetic disorder associate with a mutation in the AR gene, resulting in the complete resistance to androgenic hormones.;

Details

Origin ID

C120191;

UMLS CUI

C0936016;

Automatic exact mappings (from CISMeF team)
- androgen-insensitivity syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Complete androgen insensitivity syndrome [ORDO Disease]
- Complete androgen insensitivity syndrome (disorder) [SNOMED CT concept]
- Complete peripheral androgen resistance syndrome [ICD-11 More detail]
- complete androgen insensitivity syndrome [DO Concept]
DO Cross reference
- complete androgen insensitivity syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Complete androgen insensitivity syndrome (disorder) [SNOMED CT concept]
- Testicular feminisation syndrome [MedDRA LLT]
- Testicular feminization [PASCAL descriptor]
- Testicular feminization (disorder) [SNOMED CT concept]
- Testicular feminization syndrome [MedDRA LLT]
- complete androgen insensitivity syndrome [DO Concept]
- testicular feminization [MeSH concept]
- testicular feminization [Disease (Nov.)]
- testicular feminization, nos [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- AR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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