androgen-insensitivity syndrome

Preferred Label : androgen-insensitivity syndrome;

MeSH definition : A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY.;

MeSH synonym : Androgen-Insensitivity syndromes; androgen resistance syndrome; androgen resistance syndromes; resistance syndrome, androgen; resistance syndromes, androgen; male pseudohermaphroditism due to androgen insensitivity; androgen insensitivity syndrome; androgen insensitivity syndromes; insensitivity syndrome, androgen; insensitivity syndromes, androgen;

CISMeF synonym : syndrome, androgen insensitivity; syndrome, androgen resistance; syndrome, Androgen-Insensitivity; syndrome, complete Androgen-Insensitivity; syndrome, partial Androgen-Insensitivity; syndrome, reifenstein; syndrome, reifenstein's; syndrome, testicular feminization; syndromes, androgen insensitivity; syndromes, androgen resistance; syndromes, Androgen-Insensitivity; syndromes, complete Androgen-Insensitivity; syndromes, partial Androgen-Insensitivity; syndromes, testicular feminization;

MeSH hyponym : reifenstein syndrome; testicular feminization; Androgen-Insensitivity Syndrome, Partial; Androgen Insensitivity Syndrome, Partial; Androgen-Insensitivity Syndromes, Partial; Partial Androgen-Insensitivity Syndrome; Partial Androgen-Insensitivity Syndromes; Reifenstein's Syndrome; Reifensteins Syndrome; Androgen Insensitivity, Partial; Androgen Insensitivities, Partial; Insensitivities, Partial Androgen; Insensitivity, Partial Androgen; Partial Androgen Insensitivities; Partial Androgen Insensitivity; Feminization, Testicular; Feminizations, Testicular; Testicular Feminizations; Testicular Feminization Syndrome; Feminization Syndrome, Testicular; Feminization Syndromes, Testicular; Testicular Feminization Syndromes; Androgen-Insensitivity Syndrome, Complete; Androgen Insensitivity Syndrome, Complete; Androgen-Insensitivity Syndromes, Complete; Complete Androgen-Insensitivity Syndrome; Complete Androgen-Insensitivity Syndromes;

Related MeSH term : androgen receptor deficiency; Androgen Receptor Deficiencies; Deficiencies, Androgen Receptor; Deficiency, Androgen Receptor; Receptor Deficiencies, Androgen; Receptor Deficiency, Androgen; AR Deficiency; AR Deficiencies; Deficiencies, AR; Deficiency, AR; DHTR Deficiency; DHTR Deficiencies; Deficiencies, DHTR; Deficiency, DHTR; Dihydrotestosterone Receptor Deficiency; Deficiencies, Dihydrotestosterone Receptor; Deficiency, Dihydrotestosterone Receptor; Dihydrotestosterone Receptor Deficiencies; Receptor Deficiencies, Dihydrotestosterone; Receptor Deficiency, Dihydrotestosterone;

MeSH annotation : check the tag MALE;

Wikipedia link : https://en.wikipedia.org/wiki/Androgen insensitivity syndrome;

Details

Origin ID

D013734;

UMLS CUI

C0039585;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Androgen insensitivity, partial [OMIM Phenotype]
- Complete Androgen Insensitivity Syndrome [NCIt concept]
- Complete androgen insensitivity syndrome [ORDO Disease]
- Complete androgen insensitivity syndrome (disorder) [SNOMED CT concept]
- Complete peripheral androgen resistance syndrome [ICD-11 More detail]
- Complete testicular feminization syndrome (disorder) [SNOMED CT concept]
- Insulin autoimmune syndrome (disorder) [SNOMED CT concept]
- Partial androgen insensitivity [ICD-9 code]
- Partial androgen insensitivity syndrome [ORDO Disease]
- Partial peripheral androgen resistance syndrome [ICD-11 More detail]
- Reifenstein syndrome [PASCAL descriptor]
- Reifenstein syndrome (disorder) [SNOMED CT concept]
- Reifenstein's syndrome [MedDRA LLT]
- Testicular feminization [PASCAL descriptor]
- Testicular feminization (disorder) [SNOMED CT concept]
- androgen receptor [ORDO Gene]
- androgen receptor [HGNC gene]
- complete androgen insensitivity syndrome [DO Concept]
- complete testicular feminization syndrome [SNOMED Notion]
- partial androgen insensitivity syndrome [DO Concept]
- reifenstein syndrome [SNOMED Notion]
- testicular feminization, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- 46,XY disorder of sex development due to androgen resistance [ICD-11 Subcategory]
- Androgen Insensitivity Syndrome [NCIt concept]
- Androgen insensitivity syndrome [ICD-10 Sub-category]
- Androgen insensitivity syndrome [MedDRA Preferred Term]
- Androgen insensitivity syndrome [ICD-9 code]
- Androgen insensitivity syndrome [ICD-9 code]
- 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]
- 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]
- receptor-positive androgen resistance syndrome, nos [SNOMED Notion]
DO Cross reference
- androgen insensitivity syndrome [DO Concept]
- complete androgen insensitivity syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- 46,XY disorder of sex development [ORDO Disease]
- Male infertility with impaired virilization due to a testicular disorder [ORDO Disease]
- Male infertility with normal virilization due to a testicular defect [ORDO Disease]
- Rare male infertility [ORDO Disease]
ORDO relation(s)
- Androgen insensitivity syndrome [ORDO Disease]
Record concept(s)
- Androgen-Insensitivity syndrome [MeSH concept]
- androgen receptor deficiency [MeSH concept]
- reifenstein syndrome [MeSH concept]
- testicular feminization [MeSH concept]
Related MeSH Supplementary Concept(s)
- androgen insensitivity syndrome due to coactivator deficiency [MeSH Supplementary Concept]
- lubs syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Androgen Insensitivity Syndrome [NCIt concept]
- Androgen insensitivity syndrome [OMIM Phenotype]
- Androgen insensitivity syndrome [ICD-10 Sub-category]
- Androgen insensitivity syndrome [MedDRA Preferred Term]
- Androgen insensitivity syndrome [ICD-9 code]
- Androgen insensitivity syndrome [ICD-9 code]
- Androgen resistance syndrome (disorder) [SNOMED CT concept]
- Complete androgen insensitivity syndrome [ORDO Disease]
- androgen insensitivity syndrome [DO Concept]
- androgen insensitivity syndrome [Disease (Nov.)]
- androgen resistance syndrome, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Complete androgen insensitivity syndrome [ORDO Disease]
- Partial Androgen Insensitivity Syndrome [NCIt concept]
- Partial androgen insensitivity syndrome (disorder) [SNOMED CT concept]
- Reifenstein syndrome [Disease (Nov.)]
- Reifenstein syndrome (disorder) [SNOMED CT concept]
- testicular feminization [Disease (Nov.)]

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