Congenital Adrenal Gland Hypoplasia

Preferred Label : Congenital Adrenal Gland Hypoplasia;

NCIt related terms : Adrenal Hypoplasia Congenita; Congenital Adrenal Hypoplasia; AHC;

NCIt definition : A rare genetic disorder that affects the adrenal gland. It usually presents in infancy with signs and symptoms of adrenal insufficiency. If it is not recognized and treated promptly, it may be lethal.;

Alternative definition : NICHD: A condition present at birth characterized by underdevelopment of the adrenal gland and adrenal insufficiency.;

Details

Origin ID

C35261;

UMLS CUI

C0220766;

Automatic exact mappings (from CISMeF team)
- Acute epidemic haemorrhagic conjunctivitis [ICD-11 Subcategory]
- Adrenal hypoplasia [HPO term]
- Adrenal hypoplasia congenita [ORDO Disease]
- Adrenal hypoplasia, congenital [OMIM Phenotype]
- Alternating hemiplegia of childhood [ORDO Disease]
- Congenital adrenal hypoplasia [ICD-11 Category]
- Hypoadrenocorticism, Familial [MeSH Descriptor]
- X-linked adrenal hypoplasia congenita [DO Concept]
- alternating hemiplegia of childhood [DO Concept]
- anterior hypothalamic commissure [UBERON concept]
- nuclear receptor subfamily 0 group B member 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Congenital adrenal gland hypoplasia [MedDRA Preferred Term]
- Congenital adrenal hypoplasia [HPO term]
- Congenital hypoplasia of adrenal gland (disorder) [SNOMED CT concept]
- congenital hypoplasia of adrenal gland [SNOMED Notion]
Has associated anatomic sites
- Adrenal Gland [NCIt concept]
- Peritoneum and Retroperitoneum [NCIt concept]
- Retroperitoneum [NCIt concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Adrenal hypoplasia, congenital [OMIM Phenotype]
- Congenital adrenal gland hypoplasia [MedDRA Preferred Term]
- Congenital adrenal hypoplasia [HPO term]
- Congenital hypoplasia of adrenal gland (disorder) [SNOMED CT concept]
- X-linked adrenal hypoplasia congenita [ORDO Disease]
- congenital hypoplasia of adrenal gland [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Adrenal Gland [NCIt concept]
- Peritoneum and Retroperitoneum [NCIt concept]
- Retroperitoneum [NCIt concept]

Keyword's position in hierarchy(ies) :

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