Congenital adrenogenital disorders associated with enzyme deficiency

Preferred Label : Congenital adrenogenital disorders associated with enzyme deficiency;

Inclusion CIM-10 : Salt-losing congenital adrenal hyperplasia; 21-Hydroxylase deficiency; Congenital adrenal hyperplasia;

Diag associé à un acte (%) : 49.5;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

E250;

UMLS CUI

C0494311;

Automatic exact mappings (from CISMeF team)
- 21-Hydroxylase Deficiency [NCIt concept]
- 21-hydroxylase deficiency [MedDRA Preferred Term]
- Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency [OMIM Phenotype]
- Congenital Adrenal Hyperplasia [NCIt concept]
- Congenital adrenal hyperplasia [ICD-11 Sub-sub category]
- Congenital adrenal hyperplasia [HPO term]
- Congenital adrenal hyperplasia [MedDRA LLT]
- Congenital adrenal hyperplasia [LOINC component]
- Congenital adrenal hyperplasia (disorder) [SNOMED CT concept]
- Deficiency of steroid 21-monooxygenase (disorder) [SNOMED CT concept]
- Salt-losing congenital adrenal hyperplasia (disorder) [SNOMED CT concept]
- adrenal gland disorders [MedlinePlus Topic]
- adrenal hyperplasia, congenital [MeSH Descriptor]
- congenital adrenal hyperplasia [DO Concept]
Excluded by
- Congenital malformations of adrenal gland [ICD-10 Sub-category]
- Precocious puberty [ICD-10 Sub-category]
Orphanet concepts
- 46,XX disorder of sex development induced by fetal androgens excess [ORDO Disease]
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ORDO Disease]
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form [ORDO Disease]
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form [ORDO Disease]
- Classic congenital lipoid adrenal hyperplasia due to STAR deficency [ORDO Disease]
- Congenital adrenal hyperplasia [ORDO Disease]
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency [ORDO Disease]
- Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency [ORDO Disease]
- Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency [ORDO Disease]
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency [ORDO Disease]
- Congenital lipoid adrenal hyperplasia due to STAR deficency [ORDO Disease]
- Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency [ORDO Disease]
- Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to BTNT
- Congenital adrenal hyperplasia [ORDO Disease]
- congenital adrenal hyperplasia due to 21 hydroxylase deficiency [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- adrenocortical hyperfunction [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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