Androgen Insensitivity Syndrome

Preferred Label : Androgen Insensitivity Syndrome;

NCIt synonyms : Testicular Feminization Syndrome;

NCIt related terms : Androgen Resistance Syndrome;

NCIt definition : A disorder of sexual development in persons with 46XY karyotype, characterized by an abnormality of the genes encoding androgen receptors. It results in a female sex appearance or the development of both male and female characteristics.;

Alternative definition : NICHD: Partial or complete resistance to androgenic hormones due to one or more mutations in the androgen receptor (AR) gene.;

Details

Origin ID

C27226;

UMLS CUI

C0039585;

Automatic exact mappings (from CISMeF team)
- Testicular feminization (disorder) [SNOMED CT concept]
- testicular feminization [MeSH concept]
Currated CISMeF NLP mapping
- 46,XY disorder of sex development due to androgen resistance [ICD-11 Subcategory]
- Androgen insensitivity syndrome [ICD-10 Sub-category]
- Androgen insensitivity syndrome [ICD-9 code]
- Androgen insensitivity syndrome [ICD-9 code]
- Androgen insensitivity syndrome [MedDRA Preferred Term]
- Androgen insensitivity syndrome [OMIM Phenotype]
- Androgen insensitivity syndrome [ORDO Disease]
- Androgen resistance syndrome [ICD-10 Sub-category (who)]
- Androgen resistance syndrome (disorder) [SNOMED CT concept]
- Androgen-Insensitivity syndrome [MeSH concept]
- Receptor-positive androgen resistance syndrome (disorder) [SNOMED CT concept]
- Testicular feminisation syndrome [MedDRA LLT]
- Testicular feminization syndrome [MedDRA LLT]
- androgen insensitivity syndrome [DO Concept]
- androgen insensitivity syndrome [Disease (Nov.)]
- androgen resistance syndrome, nos [SNOMED Notion]
- androgen-insensitivity syndrome [MeSH Descriptor]
- receptor-positive androgen resistance syndrome, nos [SNOMED Notion]
DO Cross reference
- androgen insensitivity syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Androgen insensitivity syndrome [ICD-10 Sub-category]
- Androgen insensitivity syndrome [MedDRA Preferred Term]
- Androgen insensitivity syndrome [OMIM Phenotype]
- Androgen insensitivity syndrome [ICD-9 code]
- Androgen insensitivity syndrome [ICD-9 code]
- Androgen resistance syndrome (disorder) [SNOMED CT concept]
- Androgen-Insensitivity syndrome [MeSH concept]
- Complete androgen insensitivity syndrome [ORDO Disease]
- androgen insensitivity syndrome [DO Concept]
- androgen insensitivity syndrome [Disease (Nov.)]
- androgen resistance syndrome, nos [SNOMED Notion]
- androgen-insensitivity syndrome [MeSH Descriptor]
Validated automatic mappings to BTNT
- Complete androgen insensitivity syndrome [ORDO Disease]
- testicular feminization [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_associated_gene
- AR Gene [NCIt concept]
- AR wt Allele [NCIt concept]
disease_mapped_to_gene
- AR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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