290028006: Genetic syndrome (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

430003015 Genetic syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

684544011 Genetic syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3844071000005113 genetisk syndrom da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
genetisk syndrom	Is a	multisystemsygdom	false	Inferred relationship	Some
genetisk syndrom	Is a	Hereditary disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
DNA instability syndrome	Is a	False	genetisk syndrom	Inferred relationship	Some
Maturity onset diabetes of the young, type 2 (disorder)	Associated with	False	genetisk syndrom	Inferred relationship	Some
Hyperproinsulinaemia	Associated with	False	genetisk syndrom	Inferred relationship	Some
Maternally inherited diabetes and deafness (disorder)	Associated with	False	genetisk syndrom	Inferred relationship	Some
Impaired glucose tolerance associated with genetic syndrome	Associated with	False	genetisk syndrom	Inferred relationship	Some
maturity onset diabetes of the young	Associated with	False	genetisk syndrom	Inferred relationship	Some
Diabetes mellitus associated with genetic syndrome	Associated with	False	genetisk syndrom	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 2	Associated with	False	genetisk syndrom	Inferred relationship	Some
Rabson-Mendenhall syndrome	Associated with	False	genetisk syndrom	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.	Associated with	False	genetisk syndrom	Inferred relationship	Some
insulinafhængig diabetes mellitus med sekretorisk diarésyndrom	Associated with	False	genetisk syndrom	Inferred relationship	Some
Renal cysts and diabetes syndrome	Associated with	False	genetisk syndrom	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.	Due to	False	genetisk syndrom	Inferred relationship	Some
Laminopathy type Decaudain Vigouroux	Due to	False	genetisk syndrom	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.	Due to	False	genetisk syndrom	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)