male pseudohermaphroditism due to deficiency of testicular 17,20-Desmolase

Preferred Label : male pseudohermaphroditism due to deficiency of testicular 17,20-Desmolase;

UMLS semantic type : T047 - Disease or Syndrome;

Details

Origin ID

M0564409;

UMLS CUI

C1839840;

Automatic exact mappings (from CISMeF team)
- 46,XY sex reversal 8 [DO Concept]
- 46,xy sex reversal 8 [OMIM Phenotype]
Currated CISMeF NLP mapping
- 17 alpha-Hydroxyprogesterone aldolase deficiency (disorder) [SNOMED CT concept]
- 17 alpha-hydroxyprogesterone aldolase deficiency [SNOMED Notion]
Related record
- male pseudohermaphroditism due to deficiency of testicular 17,20-Desmolase [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency [ORDO Disease]
- 46,xy sex reversal 8 [OMIM Phenotype]

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