Triple A Syndrome

Preferred Label : Triple A Syndrome;

NCIt synonyms : Allgrove Syndrome;

NCIt related terms : Achalasia-Addisonianism-Alacrima Syndrome; Triple-A syndrome; 3A syndrome;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the AAAS gene encoding the protein ALADIN, and characterized by primary adrenal insufficiency, esophageal dysmotility, and absence of tear production.;

NCI Metathesaurus CUI : CL513381;

Details

Origin ID

C35710;

UMLS CUI

C0271742;

Currated CISMeF NLP mapping
- AAA syndrome [Disease (Nov.)]
- Achalasia Addisonianism Alacrimia syndrome [MeSH concept]
- Achalasia-addisonianism-alacrima syndrome [OMIM Phenotype]
- Allgrove syndrome [MedDRA LLT]
- Allgrove syndrome [PASCAL descriptor]
- Glucocorticoid deficiency with achalasia (disorder) [SNOMED CT concept]
- Triple A syndrome [ORDO Disease]
- Triple A syndrome [MedDRA Preferred Term]
- Triple A syndrome [ICD-11 More detail]
- achalasia addisonianism alacrimia syndrome [MeSH Supplementary Concept]
- glucocorticoid deficiency with achalasia [SNOMED Notion]
- triple-A syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- AAA syndrome [Disease (Nov.)]
- Achalasia Addisonianism Alacrimia syndrome [MeSH concept]
- Achalasia-addisonianism-alacrima syndrome [OMIM Phenotype]
- Allgrove syndrome [MedDRA LLT]
- Glucocorticoid deficiency with achalasia (disorder) [SNOMED CT concept]
- Triple A syndrome [MedDRA Preferred Term]
- Triple A syndrome [ORDO Disease]
- achalasia addisonianism alacrimia syndrome [MeSH Supplementary Concept]
- glucocorticoid deficiency with achalasia [SNOMED Notion]
- triple-A syndrome [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- AAAS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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