Partial Androgen Insensitivity Syndrome

Preferred Label : Partial Androgen Insensitivity Syndrome;

NCIt synonyms : PAIS;

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

Details

Origin ID

C120192;

UMLS CUI

C0268301;

Automatic exact mappings (from CISMeF team)
- Phosphoribosylglycinamide formyltransferase/phosphoribosylglycinamide synthetase/phosphoribosylaminoimidazole synthetase [OMIM gene]
Currated CISMeF NLP mapping
- Androgen insensitivity, partial [OMIM Phenotype]
- Partial androgen insensitivity [ICD-9 code]
- Partial androgen insensitivity syndrome [ORDO Disease]
- Partial androgen insensitivity syndrome (disorder) [SNOMED CT concept]
- Reifenstein syndrome [Disease (Nov.)]
- Reifenstein syndrome (disorder) [SNOMED CT concept]
- Reifenstein's syndrome [MedDRA LLT]
- partial androgen insensitivity syndrome [DO Concept]
- reifenstein syndrome [MeSH concept]
- reifenstein syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Androgen insensitivity, partial [OMIM Phenotype]
- Partial androgen insensitivity [ICD-9 code]
- Partial androgen insensitivity syndrome [ORDO Disease]
- Partial androgen insensitivity syndrome (disorder) [SNOMED CT concept]
- Reifenstein syndrome [Disease (Nov.)]
- Reifenstein syndrome (disorder) [SNOMED CT concept]
- Reifenstein's syndrome [MedDRA LLT]
- reifenstein syndrome [SNOMED Notion]
- reifenstein syndrome [MeSH concept]
Validated automatic mappings to NTBT
- androgen-insensitivity syndrome [MeSH Descriptor]
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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