5969009: Diabetes mellitus associated with genetic syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of body system\Disorder of endocrine system\Diabetes mellitus\Secondary diabetes mellitus\Diabetes mellitus associated with genetic syndrome

\Metabolic disease\Disorder of carbohydrate metabolism\Disorder of glucose metabolism\Diabetes mellitus\Secondary diabetes mellitus\Diabetes mellitus associated with genetic syndrome

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Diabetes mellitus associated with genetic syndrome	Is a	Diabetes mellitus	false	Inferred relationship	Some
Diabetes mellitus associated with genetic syndrome	Finding site	Endocrine pancreatic structure	false	Inferred relationship	Some
Diabetes mellitus associated with genetic syndrome	Finding site	Entire endocrine gonad (body structure)	false	Inferred relationship	Some
Diabetes mellitus associated with genetic syndrome	Associated with	genetisk syndrom	false	Inferred relationship	Some
Diabetes mellitus associated with genetic syndrome	Finding site	Structure of digestive system (body structure)	false	Inferred relationship	Some
Diabetes mellitus associated with genetic syndrome	Finding site	Structure of endocrine system (body structure)	true	Inferred relationship	Some	2
Diabetes mellitus associated with genetic syndrome	Is a	Secondary diabetes mellitus	true	Inferred relationship	Some
Diabetes mellitus associated with genetic syndrome	Associated with	Genetic disease	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hyperproinsulinaemia	Is a	False	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some
Maternally inherited diabetes and deafness (disorder)	Is a	True	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some
Congenital lipoatrophic diabetes	Is a	False	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some
maturity onset diabetes of the young	Is a	False	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 2	Is a	False	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some
Rabson-Mendenhall syndrome	Is a	True	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some
A rare genetic endocrine disorder with characteristics of type 1 diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Two types of Wolfram syndrome may be distinguished: type 1 (WS1) and type 2 (WS2). Two causative genes have been identified: WFS1 (4p16.1) and CISD2 (4q24). The clinical criteria for Wolfram syndrome diagnosis are juvenile-onset diabetes mellitus and optic atrophy, family history of Wolfram syndrome or diabetes mellitus and deafness. Transmission is autosomal recessive.	Is a	False	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some
Renal cysts and diabetes syndrome	Is a	False	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some
insulinafhængig diabetes mellitus med sekretorisk diarésyndrom	Is a	False	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some
A rare, severe, circulatory system disease characterized by premature, diffuse, severe atherosclerosis (including the aorta and renal, coronary, and cerebral arteries), sensorineural deafness, diabetes mellitus, progressive neurological deterioration with cerebellar symptoms and photomyoclonic seizures, and progressive nephropathy. Partial deficiency of mitochondrial complexes III and IV in the kidney and fibroblasts (but not in muscle) may be associated. There have been no further descriptions in the literature since 1994.	Is a	False	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some
Laminopathy type Decaudain Vigouroux	Is a	False	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some
Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.	Is a	True	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some
A rare genetic syndromic intellectual disability disorder with characteristics of congenital, persistent microcephaly, low birth weight, short stature, childhood-onset seizures, global development delay, mild intellectual disability, and adolescent or young adult-onset diabetes mellitus. Gait ataxia, skeletal abnormalities, dorsocervical fat pad and infantile cirrhosis may also be associated. Brain morphology is typically normal, although delayed myelination and hypoplastic brainstem have been reported.	Is a	False	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some
A rare genetic mitochondrial DNA-related mitochondrial myopathy disorder with characteristics of slowly progressive muscular weakness (proximal greater than distal), predominantly involving the facial muscles and scapular girdle, associated with insulin-dependent diabetes mellitus. Neurological involvement and congenital myopathy may be variably observed. The phenotype is caused by mutation in the mitochondrially-encoded tRNA-glu gene (MTTE).	Is a	True	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some
Woodhouse-Sakati syndrome is a multisystemic disorder with characteristics of hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. The onset is usually in adolescence. Additional manifestations may include sensorineural deafness, flattened T waves on ECG, seizures, sensory polyneuropathy, dysarthria, various craniofacial abnormalities (high forehead, flat occiput, triangular face, prominent nasal root, hypertelorism, and down-slanting palpebral fissures), scoliosis, hyperreflexia, and camptodactyly. Associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function. The disease is transmitted in an autosomal recessive manner.	Is a	True	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some
Diabetes mellitus due to cystic fibrosis (disorder)	Is a	True	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some
diabetes mellitus associeret med cystisk fibrose	Is a	False	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	Is a	True	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction	Is a	True	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some
A rare hereditary ataxia with characteristics of neurogenic muscular atrophy associated with signs of cerebellar ataxia, degeneration of the retina and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive.	Is a	True	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some
A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency.	Is a	True	Diabetes mellitus associated with genetic syndrome	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
10928019	Diabetes mellitus associated with genetic syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
498512013	Genetic syndromes of diabetes mellitus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
798560017	Diabetes mellitus associated with genetic syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330411000005116	diabetes mellitus associeret med genetisk syndrom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)