congenital adrenal hyperplasia due to 21 hydroxylase deficiency

Preferred Label : congenital adrenal hyperplasia due to 21 hydroxylase deficiency;

MeSH synonym : 21 hydroxylase deficiency; congenital adrenal hyperplasia 1; CYP21 deficiency; 21 alpha hydroxylase deficiency; adrenal hyperplasia III; 21-Hydroxylase deficiency;

MeSH Hyperonym : Attenuated congenital adrenal hyperplasia; NCCAH; LOCAH; Non classic congenital adrenal hyperplasia;

Is substance : O;

Details

Origin ID

C535979;

UMLS CUI

C2936858;

Automatic exact mappings (from CISMeF team)
- Deficiency of steroid 21-monooxygenase (disorder) [SNOMED CT concept]
- Non-Classic Congenital Adrenal Hyperplasia [NCIt concept]
Currated CISMeF NLP mapping
- 21-Hydroxylase Deficiency [NCIt concept]
- 21-hydroxylase deficiency [MedDRA Preferred Term]
- Adrenal Gland Hyperplasia III [NCIt concept]
- Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency [OMIM Phenotype]
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ORDO Disease]
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) [SNOMED CT concept]
- Congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ICD-11 More detail]
- congenital adrenal hyperplasia 1 [Disease (Nov.)]
- steroid 21-monooxygenase deficiency, simple virilizing type [SNOMED Notion]
MeSH term(s) associated for indexing
- adrenal hyperplasia, congenital [MeSH Descriptor]
Record concept(s)
- Congenital adrenal hyperplasia due to 21 hydroxylase deficiency [MeSH concept]
- Late-onset congenital adrenal hyperplasia [MeSH concept]
See also (suggested by CISMeF)
- steroid 21-hydroxylase [MeSH Descriptor]
See also inter- (CISMeF)
- Deficiency of steroid 21-monooxygenase (disorder) [SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Adrenal Gland Hyperplasia III [NCIt concept]
- Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency [OMIM Phenotype]
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ORDO Disease]
- Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ORDO Disease]
Validated automatic mappings to BTNT
- Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ORDO Disease]
Validated automatic mappings to NTBT
- Congenital adrenogenital disorders associated with enzyme deficiency [ICD-10 Sub-category]
- Congenital adrenogenital disorders associated with enzyme deficiency [ICD-10 Sub-category (who)]

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