Pseudovaginal perineoscrotal hypospadias

Preferred Label : Pseudovaginal perineoscrotal hypospadias;

Symbol : PPSH;

CISMeF acronym : PPSH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Male pseudohermaphroditism due to 5-alpha-reductase deficiency; Familial incomplete male pseudohermaphroditism, type 2;

Included titles and symbols : Micropenis;

Description : Pseudovaginal perineoscrotal hypospadias is a form of male pseudohermaphroditism in which 46,XY males show ambiguous genitalia at birth, including perineal hypospadias and a blind perineal pouch, and develop masculinization at puberty. The name of the disorder stems from the finding of a blind-ending perineal opening resembling a vagina and a severely hypospadiac penis with the urethra opening onto the perineum.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the 5-alpha-reductase-2 gene (SRD5A2, 607306.0001);

Laboratory abnormalities : 5-alpha-reductase-2 enzyme deficiency;

Prefixed ID : #264600;

Details

Origin ID

264600;

UMLS CUI

C0268297;

Automatic exact mappings (from CISMeF team)
- Congenital hypoplasia of penis (disorder) [SNOMED CT concept]
- Male pseudohermaphroditism due to 5-alpha-reductase deficiency (disorder) [SNOMED CT concept]
- Micropenis [MedDRA Preferred Term]
- Micropenis [HPO term]
- Micropenis [ICD-9 code]
- penis agenesis [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) [SNOMED CT concept]
- 3-oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [SNOMED Notion]
- 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency [ORDO Disease]
- 5 Alpha Steroid Reductase 2 Deficiency [NCIt concept]
- 5 alpha reductase deficiency [Disease (Nov.)]
- 5-Alpha reductase deficiency [MeSH concept]
- 5-alpha-reductase deficiency [MedDRA Preferred Term]
- Pseudovaginal perineoscrotal hypospadias [MeSH concept]
- pseudovaginal perineoscrotal hypospadias [MeSH Supplementary Concept]
Genes related to phenotype
- Steroid 5-alpha-reductase 2 [OMIM gene]
HPO term(s)
- Abnormal hair morphology [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the endocrine system [HPO term]
- Abnormality of the voice [HPO term]
- Ambiguous genitalia, male [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid scrotum [HPO term]
- Cryptorchidism [HPO term]
- Micropenis [HPO term]
- Perineal hypospadias [HPO term]
- Uniparental disomy [HPO term]
ORDO concept(s)
- 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency [ORDO Disease]
See also inter- (CISMeF)
- 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) [SNOMED CT concept]
- 3-oxo-5 alpha-steroid delta 4-dehydrogenase deficiency [SNOMED Notion]
- 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency [ORDO Disease]
- 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency [ICD-11 More detail]
- 5 Alpha Steroid Reductase 2 Deficiency [NCIt concept]
- 5 alpha reductase deficiency [Disease (Nov.)]
- 5 alpha reductase deficiency type 2 [Disease (Nov.)]
- 5-alpha-reductase deficiency [MedDRA Preferred Term]
- Male pseudohermaphroditism due to 5-alpha-reductase deficiency (disorder) [SNOMED CT concept]
- Pseudovaginal perineoscrotal hypospadias [MeSH concept]
- pseudovaginal perineoscrotal hypospadias [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- 5 alpha reductase deficiency type 2 [Disease (Nov.)]

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