Congenital Adrenal Hyperplasia

Preferred Label : Congenital Adrenal Hyperplasia;

NCIt synonyms : Adrenal Hyperplasia; Adrenal Hyperplasia, Congenital; Adrenogenital Syndrome; Congenital Adrenal Gland Hyperplasia;

NCIt related terms : Adrenogenital Disorder;

NCIt definition : A genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting in hyperplasia of the adrenal cortical cells.;

Alternative definition : NICHD: A group of heritable conditions associated with loss-of-function mutations in the genes encoding proteins involved in corticosteroid production, resulting in enlargement of the adrenal gland.;

Details

Origin ID

C34360;

UMLS CUI

C0001627;

Automatic exact mappings (from CISMeF team)
- Adrenal hyperplasia [ACR pathology]
- Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency [OMIM Phenotype]
- Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency [OMIM Phenotype]
- Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency [OMIM Phenotype]
- Adrenogenital disorders [ICD-10 category]
- Adrenogenital disorders [ICD-9 code]
- Adrenogenital syndrome [ACR pathology]
- Adrenogenital syndrome [ACR pathology]
- Adrenomedullary hyperplasia [ICD-11 More detail]
- Congenital adrenogenital disorders associated with enzyme deficiency [ICD-10 Sub-category]
- Enlarged adrenal gland (disorder) [SNOMED CT concept]
- Hyperplasia adrenal [MedDRA Preferred Term]
- Lipoid congenital adrenal hyperplasia [OMIM Phenotype]
- adrenal gland disorders [MedlinePlus Topic]
Currated CISMeF NLP mapping
- Adrenal hyperplasia [HPO term]
- Adrenogenital disorder (disorder) [SNOMED CT concept]
- Adrenogenital disorders [ICD-11 Category]
- Adrenogenital syndrome [PASCAL descriptor]
- Adrenogenital syndrome [ORDO Disease]
- Adrenogenital syndrome [MedDRA Preferred Term]
- Adrenogenital syndrome [HPO term]
- Congenital adrenal hyperplasia [ORDO Disease]
- Congenital adrenal hyperplasia [MedDRA LLT]
- Congenital adrenal hyperplasia [LOINC component]
- Congenital adrenal hyperplasia [HPO term]
- Congenital adrenal hyperplasia [ICD-11 Sub-sub category]
- Congenital adrenal hyperplasia (disorder) [SNOMED CT concept]
- Congenital adrenogenital syndrome (disorder) [Inactive SNOMED CT concept]
- Hyperplasia adrenal [MedDRA LLT]
- adrenal hyperplasia [Disease (Nov.)]
- adrenal hyperplasia, congenital [MeSH Descriptor]
- adrenal hyperplasia, congenital [MeSH concept]
- adrenogenital syndrome [MeSH Descriptor]
- adrenogenital syndrome [MeSH concept]
- congenital adrenal cortical hyperplasia, nos [SNOMED Notion]
- congenital adrenal hyperplasia [DO Concept]
- congenital adrenal hyperplasia [Disease (Nov.)]
False automatic mappings
- Adrenal hyperplasia (disorder) [SNOMED CT concept]
Has associated anatomic sites
- Adrenal Gland [NCIt concept]
- Peritoneum and Retroperitoneum [NCIt concept]
- Retroperitoneum [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital adrenal hyperplasia [ORDO Disease]
- Congenital adrenal hyperplasia [MedDRA LLT]
- Congenital adrenal hyperplasia [HPO term]
- Congenital adrenal hyperplasia [ICD-11 Sub-sub category]
- Congenital adrenal hyperplasia [LOINC component]
- Congenital adrenal hyperplasia (disorder) [SNOMED CT concept]
- adrenal hyperplasia, congenital [MeSH concept]
- adrenal hyperplasia, congenital [MeSH Descriptor]
- congenital adrenal hyperplasia [Disease (Nov.)]
Validated automatic mappings to NTBT
- adrenogenital syndrome [Disease (Nov.)]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_associated_disease
- Adrenal Rest Tumor [NCIt concept]
disease_has_primary_anatomic_site
- Adrenal Gland [NCIt concept]
- Peritoneum and Retroperitoneum [NCIt concept]
- Retroperitoneum [NCIt concept]

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