wolfram syndrome

Preferred Label : wolfram syndrome;

MeSH definition : A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.;

MeSH synonym : diabetes insipidus and mellitus with optic atrophy and deafness; DIDMOAD syndrome; syndrome, wolfram; didmoad; DIDMOADUD; diabetes insipidus, diabetes mellitus, optic atrophy, and deafness;

CISMeF synonym : wolfram's syndrome; wolfram syndrome 1;

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

Details

Origin ID

D014929;

UMLS CUI

C0043207;

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]
Automatic exact mappings (from CISMeF team)
- DIDMOAD syndrome [MedDRA LLT]
- Wolfram [OMIConto metadata]
- Wolfram syndrome [ICD-11 More detail]
- Wolfram syndrome [MedDRA Preferred Term]
- wolframin ER transmembrane glycoprotein [ORDO Gene]
Currated CISMeF NLP mapping
- Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder) [SNOMED CT concept]
- Wolfram Syndrome [NCIt concept]
- Wolfram syndrome [PASCAL descriptor]
- Wolfram syndrome [DO Concept]
- Wolfram syndrome [Disease (Nov.)]
- Wolfram syndrome [ORDO Disease]
- Wolfram syndrome 1 [OMIM Phenotype]
- diabetes mellitus and insipidus with optic atrophy and deafness [SNOMED Notion]
DO Cross reference
- Wolfram syndrome [DO Concept]
False automatic mappings
- tungsten [Substance BNPC]
Manual NTBT mappings (CISMeF)
- Autosomal recessive syndromic optic atrophy [ORDO Disease]
- Rare diabetes mellitus type 1 [ORDO Disease]
- Rare genetic diabetes mellitus [ORDO Disease]
ORDO relation(s)
- Wolfram syndrome [ORDO Disease]
Record concept(s)
- Wolfram Syndrome 1 [MeSH concept]
- wolfram syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- Wolfram-Like syndrome, autosomal dominant [MeSH Supplementary Concept]
See also inter- (CISMeF)
- wolframin ER transmembrane glycoprotein [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- DIDMOAD syndrome [MedDRA LLT]
- Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder) [SNOMED CT concept]
- Wolfram Syndrome [NCIt concept]
- Wolfram syndrome [ORDO Disease]
- Wolfram syndrome [DO Concept]
- Wolfram syndrome [PASCAL descriptor]
- Wolfram syndrome [Disease (Nov.)]
- Wolfram syndrome [MedDRA Preferred Term]
- Wolfram syndrome 1 [OMIM Phenotype]
- Wolfram syndrome 1 [DO Concept]
- diabetes mellitus and insipidus with optic atrophy and deafness [SNOMED Notion]
Validated automatic mappings to BTNT
- Wolfram syndrome 1 [DO Concept]

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