alstrom syndrome

Preferred Label : alstrom syndrome;

MeSH definition : Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.;

MeSH synonym : alstrom's syndrome; syndrome, alstrom's; syndrome, alstrom; alstroms syndrome; alström syndrome; Alstrom-Hallgren syndrome; alstrom hallgren syndrome; syndrome, Alstrom-Hallgren; Syndrome, Alström;

CISMeF synonym : Alström;

DeCS synonym : Alstr m Syndrome;

Wikipedia link : https://en.wikipedia.org/wiki/Alström syndrome;

Details

Origin ID

D056769;

UMLS CUI

C0268425;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Alstroem syndrome [MedDRA Preferred Term]
- Alstrom Syndrome [NCIt concept]
- 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 [SNOMED Notion]
DO Cross reference
- Alstrom syndrome [DO Concept]
Manual NTBT mappings (CISMeF)
- Genetic obesity [ORDO Disease]
- Rare diabetes mellitus type 2 [ORDO Disease]
- Rare genetic diabetes mellitus [ORDO Disease]
- Renal ciliopathy [ORDO Disease]
- Retinal ciliopathy [ORDO Disease]
- Syndrome associated with dilated cardiomyopathy [ORDO Disease]
- Syndromic genetic deafness [ORDO Disease]
- Syndromic rod-cone dystrophy [ORDO Disease]
MeSH Descriptor(s) used for indexing
- caspase 8 [MeSH Descriptor]
ORDO relation(s)
- Alström syndrome [ORDO Disease]
Record concept(s)
- alstrom syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alstroem syndrome [MedDRA Preferred Term]
- Alstrom Syndrome [NCIt concept]
- 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]

Keyword's position in hierarchy(ies) :

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