cortisone reductase deficiency

Preferred Label : cortisone reductase deficiency;

MeSH synonym : 11-beta-hydroxysteroid dehydrogenase, type i, deficiency of;

Details

Origin ID

C536447;

UMLS CUI

C1291245;

CISMeF manual mappings
- Deficiency of (R)-20-hydroxysteroid dehydrogenase (disorder) [SNOMED CT concept]
- Hyperandrogenism due to cortisone reductase deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency [NCIt concept]
- Cortisone reductase deficiency [OMIM phenotypic series]
- Hyperandrogenism due to cortisone reductase deficiency [ICD-11 More detail]
- Hyperandrogenism due to cortisone reductase deficiency (disorder) [SNOMED CT concept]
- cortisone reductase deficiency [DO Concept]
- cortisone reductase deficiency [Disease (Nov.)]
- cortisone reductase deficiency 1 [DO Concept]
DO Cross reference
- cortisone reductase deficiency [DO Concept]
MeSH term(s) associated for indexing
- 11-beta-hydroxysteroid dehydrogenases [MeSH Descriptor]
- 46, XX disorders of sex development [MeSH Descriptor]
- hirsutism [MeSH Descriptor]
- steroid metabolism, inborn errors [MeSH Descriptor]
Record concept(s)
- Cortisone reductase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of (R)-20-hydroxysteroid dehydrogenase (disorder) [SNOMED CT concept]
- Hyperandrogenism due to cortisone reductase deficiency [ORDO Disease]
- cortisone reductase deficiency [DO Concept]
- cortisone reductase deficiency [Disease (Nov.)]
Validated automatic mappings to BTNT
- Cortisone reductase deficiency 1 [OMIM Phenotype]
- Hexose-6-phosphate Dehydrogenase Deficiency [NCIt concept]

Keyword's position in hierarchy(ies) :

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