Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency

Preferred Label : Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Adrenal hyperplasia V; 17-alpha-hydroxylase deficiency;

Included titles and symbols : 17,20-lyase deficiency, isolated; 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete; 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial;

Inheritance : Autosomal recessive;

Prefixed ID : #202110;

Details

Origin ID

202110;

UMLS CUI

C0268285;

Automatic exact mappings (from CISMeF team)
- 17,20-Lyase deficiency, isolated [MeSH concept]
- 17,20-Lyase deficiency, isolated [MeSH Supplementary Concept]
- Congenital Adrenal Hyperplasia [NCIt concept]
- Congenital adrenal hyperplasia [ORDO Disease]
Broader ORDO disease(s)
- Congenital adrenal hyperplasia [ORDO Disease]
Currated CISMeF NLP mapping
- 17-alpha-hydroxylase deficiency [MedDRA Preferred Term]
- Adrenal hyperplasia, congenital, type 5 [MeSH concept]
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency [ICD-11 More detail]
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency [ORDO Disease]
- Deficiency of steroid 17-alpha-monooxygenase (disorder) [SNOMED CT concept]
- adrenal hyperplasia, congenital, type 5 [MeSH Supplementary Concept]
- congenital adrenal hyperplasia 5 [Disease (Nov.)]
- congenital adrenal hyperplasia due to 17 alpha hydroxylase deficiency [Disease (Nov.)]
- steroid 17 alpha-monooxygenase deficiency [SNOMED Notion]
DO Cross reference
- congenital adrenal hyperplasia [DO Concept]
Genes related to phenotype
- Cytochrome p450, family 17, subfamily a, polypeptide 1 [OMIM gene]
HPO term(s)
- Adrenal hyperplasia [HPO term]
- Adrenogenital syndrome [HPO term]
- Ambiguous genitalia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Gynecomastia [HPO term]
- Hypertension [HPO term]
- Hypokalemic alkalosis [HPO term]
- Male pseudohermaphroditism [HPO term]
- Primary amenorrhea [HPO term]
ORDO concept(s)
- 46,XY disorder of sex development due to isolated 17,20-lyase deficiency [ORDO Disease]
- Congenital adrenal hyperplasia [ORDO Disease]
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 17-alpha-hydroxylase deficiency [MedDRA Preferred Term]
- 46,XY disorder of sex development due to isolated 17,20-lyase deficiency [ORDO Disease]
- Adrenal hyperplasia, congenital, type 5 [MeSH concept]
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency [ORDO Disease]
- Deficiency of steroid 17-alpha-monooxygenase (disorder) [SNOMED CT concept]
- adrenal hyperplasia, congenital, type 5 [MeSH Supplementary Concept]
- congenital adrenal hyperplasia 5 [Disease (Nov.)]
- congenital adrenal hyperplasia due to 17 alpha hydroxylase deficiency [Disease (Nov.)]
- steroid 17 alpha-monooxygenase deficiency [SNOMED Notion]

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