FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

5969009: Diabetes mellitus associated with genetic syndrome (disorder)

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

Descriptions:

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
6059601000241114 diabète sucré associé à un syndrome génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

10 descendants. Search Descendants:

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 syndrome génétique 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
Hyperproinsulinemia 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 mellitus in 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 characterised by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. 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
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 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 characterized by 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 characterized by 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. Is a True Diabetes mellitus associated with genetic syndrome Inferred relationship Some
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. 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
diabète sucré concomitant et dû à la mucoviscidose Is a False Diabetes mellitus associated with genetic syndrome Inferred relationship Some
Megaloblastic anaemia, 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 characterised by neurogenic muscular atrophy associated with signs of cerebellar ataxia, hypaesthesia, degeneration of the retina, and diabetes mellitus. Onset of the disease is in adolescence and the course is slowly progressive. There have been no further descriptions in the literature since 1983. 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

This concept is not in any reference sets

Back to Start