18-Hydroxylase deficiency

Preferred Label : 18-Hydroxylase deficiency;

MeSH synonym : aldosterone deficiency 1; corticosterone methyloxidase type 1 deficiency; 18-alpha hydroxylase deficiency; aldosterone deficiency due to defect in 18-hydroxylase; corticosterone methyloxidase type I deficiency; 18-Oxidase deficiency; aldosterone deficiency type I; aldosterone deficiency type II; CMO I deficiency; CMO II deficiency; corticosterone methyloxidase type II deficiency; hyperreninemic hypoaldosteronism, familial, type I; steroid 18-Hydroxylase deficiency; steroid 18-Oxidase deficiency;

Details

Origin ID

C537806;

UMLS CUI

C0268293;

Automatic exact mappings (from CISMeF team)
- Corticosterone methyloxidase type II deficiency [OMIM Phenotype]
Currated CISMeF NLP mapping
- Corticosterone 18-monooxygenase deficiency (disorder) [SNOMED CT concept]
- Corticosterone methyloxidase type I deficiency [OMIM Phenotype]
- Familial hyperreninemic hypoaldosteronism type 1 [ORDO Disease]
- corticosterone 18-monooxygenase deficiency [SNOMED Notion]
MeSH term(s) associated for indexing
- Cytochrome P-450 CYP11B2 [MeSH Descriptor]
- hypoaldosteronism [MeSH Descriptor]
Record concept(s)
- 18-Hydroxylase deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Corticosterone 18-monooxygenase deficiency (disorder) [SNOMED CT concept]
- Corticosterone methyloxidase type I deficiency [OMIM Phenotype]
- Familial hyperreninemic hypoaldosteronism type 1 [ORDO Disease]
- corticosterone 18-monooxygenase deficiency [SNOMED Notion]

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