corticosterone 18-monooxygenase deficiency

Preferred Label : corticosterone 18-monooxygenase deficiency;

Origin ID

D6-80170;

UMLS CUI

C0268293;

Currated CISMeF NLP mapping
- 18-Hydroxylase deficiency [MeSH Supplementary Concept]
- 18-Hydroxylase deficiency [MeSH concept]
- Corticosterone 18-monooxygenase deficiency (disorder) [SNOMED CT concept]
- Corticosterone methyloxidase type I deficiency [OMIM Phenotype]
- Familial hyperreninemic hypoaldosteronism type 1 [ORDO Disease]
ICD-10 exact mapping(s)
- Congenital adrenogenital disorders associated with enzyme deficiency [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Familial hypoaldosteronism [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- congenital deficiency, nos [SNOMED Notion]
- corticosterone 18-monooxygenase [SNOMED Notion]
SNOMED CT concept
- Corticosterone 18-monooxygenase deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 18-Hydroxylase deficiency [MeSH Supplementary Concept]
- 18-Hydroxylase deficiency [MeSH concept]
- Corticosterone 18-monooxygenase deficiency (disorder) [SNOMED CT concept]
- Corticosterone methyloxidase type I deficiency [OMIM Phenotype]
- Familial hyperreninemic hypoaldosteronism type 1 [ORDO Disease]