Congenital Isolated Adrenocorticotropic Hormone Deficiency

Preferred Label : Congenital Isolated Adrenocorticotropic Hormone Deficiency;

NCIt related terms : Congenital Isolated ACTH Deficiency;

Alternative definition : NICHD: Adrenocorticotropic hormone (ACTH) deficiency due to mutation(s) in the TBX19 gene.;

Details

Origin ID

C120437;

UMLS CUI

C4055196;

Automatic exact mappings (from CISMeF team)
- Congenital isolated ACTH deficiency [ORDO Disease]
- Congenital isolated ACTH deficiency [ICD-11 More detail]
Currated CISMeF NLP mapping
- Congenital isolated adrenocorticotropic hormone deficiency (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital isolated adrenocorticotropic hormone deficiency (disorder) [SNOMED CT concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
related_to_genetic_biomarker
- TBX19 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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