X-Linked Adrenal Hypoplasia Congenita

Preferred Label : X-Linked Adrenal Hypoplasia Congenita;

NCIt synonyms : Adrenal Hypoplasia Congenita;

NCIt definition : A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism.;

Alternative definition : NICHD: An X-linked condition present at birth characterized by underdevelopment of the adrenal gland and adrenal insufficiency.;

Details

Origin ID

C123725;

UMLS CUI

C0342482;

Automatic exact mappings (from CISMeF team)
- Adrenal hypoplasia congenita [ORDO Disease]
- Hypoadrenocorticism, Familial [MeSH Descriptor]
- X-linked adrenal hypoplasia congenita [DO Concept]
Currated CISMeF NLP mapping
- Congenital adrenal hypoplasia, X-linked (disorder) [SNOMED CT concept]
- X-linked adrenal hypoplasia congenita [ORDO Disease]
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)
- Adrenal hypoplasia, congenital [OMIM Phenotype]
- Congenital adrenal hypoplasia, X-linked (disorder) [SNOMED CT concept]
concept_is_in_subset
- 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]
disease_mapped_to_gene
- NR0B1 Gene [NCIt concept]

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