17,20-Lyase deficiency, isolated

Preferred Label : 17,20-Lyase deficiency, isolated;

CISMeF synonym : 17-Alpha-Hydroxylase/17,20-Lyase deficiency, combined partial; 17-Alpha-Hydroxylase/17,20-Lyase deficiency, combined complete;

MeSH synonym : 17-Alpha-Hydroxylase-17,20-Lyase Deficiency, Combined Partial; 17-Alpha-Hydroxylase-17,20-Lyase Deficiency, Combined Complete;

Details

Origin ID

C567076;

UMLS CUI

C3277849;

Automatic exact mappings (from CISMeF team)
- Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency [OMIM Phenotype]
Currated CISMeF NLP mapping
- isolated 17,20 lyase deficiency [Disease (Nov.)]
MeSH term(s) associated for indexing
- adrenal hyperplasia, congenital [MeSH Descriptor]
- cytochrome P-450 enzyme system [MeSH Descriptor]
Record concept(s)
- 17,20-Lyase deficiency, isolated [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- isolated 17,20 lyase deficiency [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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