Steroid 21-Monooxygenase Deficiency

Preferred Label : Steroid 21-Monooxygenase Deficiency;

NCIt definition : Less than necessary amount of the enzyme steroid 21-monooxygenase; which is necessary to synthesize cortisol.;

Details

Origin ID

C101042;

UMLS CUI

C0268287;

Automatic exact mappings (from CISMeF team)
- Deficiency of steroid 21-monooxygenase (disorder) [SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form [ORDO Disease]
- Deficiency of steroid 21-monooxygenase (disorder) [SNOMED CT concept]
- Steroid 21-monooxygenase deficiency, simple virilizing type (disorder) [SNOMED CT concept]
- simple virilizing 21 hydroxylase deficiency [Disease (Nov.)]
- steroid 21-monooxygenase deficiency, simple virilizing type [SNOMED Notion]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
related_to_genetic_biomarker
- CYP21A2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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