Maternal Diabetes and Deafness Syndrome

Preferred Label : Maternal Diabetes and Deafness Syndrome;

NCIt related terms : Maternally Transmitted Diabetes with Deafness; MIDD Syndrome; Maternally Inherited Diabetes and Deafness;

NCIt definition : A maternally inherited condition characterized by diabetes and sensorineural deafness with onset after the age of 20, caused by mutation(s) in one of several mitochondrial genes, most frequently the MT-TL1 gene, which encodes the mitochondrial transfer RNA for leucine. Some patients may have additional features observed in mitochondrial disorders, including pigmentary retinopathy, ptosis, cardiomyopathy, myopathy, renal problems, and neuropsychiatric symptoms.;

NCI Metathesaurus CUI : CL513175;

Détails

Origin ID

C130996;

UMLS CUI

C0342289;

Currated CISMeF NLP mapping
- Diabetes and deafness, maternally inherited [OMIM Phenotype]
- Diabetes-deafness syndrome maternally transmitted (disorder) [SNOMED CT concept]
- Maternally inherited diabetes and deafness [ICD-11 More detail]
- Maternally-inherited diabetes and deafness [ORDO Disease]
- Noninsulin-dependent diabetes mellitus with deafness [MeSH concept]
- diabetes deafness syndrome [Disease (Nov.)]
- noninsulin-dependent diabetes mellitus with deafness [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Diabetes and deafness, maternally inherited [OMIM Phenotype]
- Diabetes-deafness syndrome maternally transmitted (disorder) [SNOMED CT concept]
- Maternally inherited diabetes and deafness [MedDRA Preferred Term]
- Maternally-inherited diabetes and deafness [ORDO Disease]
- Noninsulin-dependent diabetes mellitus with deafness [MeSH concept]
- diabetes deafness syndrome [Disease (Nov.)]
- noninsulin-dependent diabetes mellitus with deafness [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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