Alstrom Syndrome

Preferred Label : Alstrom Syndrome;

NCIt synonyms : Alström Syndrome;

NCIt definition : A rare autosomal recessive syndrome caused by mutations in the gene ALMS1. Signs and symptoms include blindness, obesity, hearing loss, endocrine abnormalities, cardiomyopathy and congestive heart failure, hepatic and renal failure.;

Alternative definition : NICHD: An autosomal recessive syndrome caused by mutation(s) in the ALMS1 gene encoding Alstrom syndrome protein 1. The condition is characterized by hyperphagia, obesity, insulin resistance, type 2 diabetes mellitus, hypogonadism, blindness, hearing loss, dilated cardiomyopathy and congestive heart failure, and hepatic and renal failure. Additionally, polycystic ovarian syndrome may occur in female individuals.;

Details

Origin ID

C84549;

UMLS CUI

C0268425;

Currated CISMeF NLP mapping
- Alstroem syndrome [MedDRA Preferred Term]
- Alstrom syndrome [DO Concept]
- Alstrom syndrome [Disease (Nov.)]
- Alstrom syndrome [OMIM Phenotype]
- Alstrom syndrome [MedDRA LLT]
- Alstrom syndrome (disorder) [SNOMED CT concept]
- Alström syndrome [ICD-11 More detail]
- Alström syndrome [ORDO Disease]
- alstrom syndrome [MeSH Descriptor]
- alstrom syndrome [MeSH concept]
- alstrom syndrome [SNOMED Notion]
DO Cross reference
- Alstrom syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alstroem syndrome [MedDRA Preferred Term]
- Alstrom syndrome [MedDRA LLT]
- Alstrom syndrome [OMIM Phenotype]
- Alstrom syndrome [DO Concept]
- Alstrom syndrome [Disease (Nov.)]
- Alstrom syndrome (disorder) [SNOMED CT concept]
- Alström syndrome [ORDO Disease]
- Alström syndrome [ICD-11 More detail]
- alstrom syndrome [SNOMED Notion]
- alstrom syndrome [MeSH concept]
- alstrom syndrome [MeSH Descriptor]
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
- ALMS1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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