congenital adrenal cortical hyperplasia, nos - CISMeF

CISMeF

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Congenital adrenal cortical hyperplasia, nosSNOMED Notion

Preferred Label : congenital adrenal cortical hyperplasia, nos;

Details

Origin ID

D6-80100;

UMLS CUI

C0302280;

Automatic exact mappings (from CISMeF team)
- Adrenogenital disorder, unspecified [ICD-10 Sub-category (who)]
- congenital adrenal cortical hyperplasia, nos [TUV Concept]
CISMeF manual mappings
- Adrenal virilism (disorder) [SNOMED CT concept]
- Congenital adrenal hyperplasia [HPO term]
- Congenital adrenogenital syndrome (disorder) [Inactive SNOMED CT concept]
ICD-10 exact mapping(s)
- Congenital adrenogenital disorders associated with enzyme deficiency [ICD-10 Sub-category (who)]
Manual BTNT mappings - CISMeF
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [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]
- Generalized glucocorticoid resistance syndrome [ORDO Disease]
- Hyperandrogenism due to cortisone reductase deficiency [ORDO Disease]
- Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ORDO Disease]
Manual NTBT mappings (CISMeF)
- 46,XX disorder of sex development induced by fetal androgens excess [ORDO Disease]
- Genetic chronic primary adrenal insufficiency [ORDO Disease]
- Rare adrenal disease [ORDO Disease]
- Rare endocrine growth disease [ORDO Disease]
- Rare genetic adrenal disease [ORDO Disease]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- adrenal gland, nos [SNOMED Notion]
- congenital hyperplasia, nos [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ADRENOGENITAL SYNDROME CONGENITAL [WHO-ART Preferred Term]
- Adrenal virilism [MedDRA LLT]
- Adrenal virilism (disorder) [SNOMED CT concept]
- Adrenogenital Syndrome [NCIt concept]
- Adrenogenital syndrome [MedDRA Preferred Term]
- Adrenogenital syndrome [HPO term]
- Adrenogenital syndrome NOS [MedDRA LLT]
- Adrenogenital syndrome congenital [MedDRA LLT]
- Androgenital syndrome [MedDRA LLT]
- Congenital adrenogenital syndrome (disorder) [Inactive SNOMED CT concept]
- adrenogenital syndrome [MeSH concept]
- adrenogenital syndrome [MeSH Descriptor]

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22/05/2025

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