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

430003015 Genetic syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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

130811000077112 syndrome génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

130811000077112 syndrome génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
syndrome génétique	Is a	trouble multisytémique	false	Inferred relationship	Existential restriction modifier (core metadata concept)
syndrome génétique	Is a	Hereditary disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
DNA instability syndrome	Is a	False	syndrome génétique	Inferred relationship	Existential restriction modifier (core metadata concept)
Maturity onset diabetes of the young, type 2 (disorder)	Associated with	False	syndrome génétique	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperproinsulinaemia	Associated with	False	syndrome génétique	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternally inherited diabetes and deafness (disorder)	Associated with	False	syndrome génétique	Inferred relationship	Existential restriction modifier (core metadata concept)
Impaired glucose tolerance associated with genetic syndrome	Associated with	False	syndrome génétique	Inferred relationship	Existential restriction modifier (core metadata concept)
Maturity onset diabetes mellitus in young	Associated with	False	syndrome génétique	Inferred relationship	Existential restriction modifier (core metadata concept)
Diabetes mellitus associated with genetic syndrome	Associated with	False	syndrome génétique	Inferred relationship	Existential restriction modifier (core metadata concept)
Polyglandular autoimmune syndrome, type 2	Associated with	False	syndrome génétique	Inferred relationship	Existential restriction modifier (core metadata concept)
Pineal hyperplasia AND diabetes mellitus syndrome (disorder)	Associated with	False	syndrome génétique	Inferred relationship	Existential restriction modifier (core metadata concept)
Wolfram syndrome (disorder)	Associated with	False	syndrome génétique	Inferred relationship	Existential restriction modifier (core metadata concept)
Insulin-dependent diabetes mellitus secretory diarrhea syndrome	Associated with	False	syndrome génétique	Inferred relationship	Existential restriction modifier (core metadata concept)
Renal cysts and diabetes syndrome	Associated with	False	syndrome génétique	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare, severe, circulatory system disease characterised 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	syndrome génétique	Inferred relationship	Existential restriction modifier (core metadata concept)
Laminopathy type Decaudain Vigouroux	Due to	False	syndrome génétique	Inferred relationship	Existential restriction modifier (core metadata concept)
Wolfram-like syndrome	Due to	False	syndrome génétique	Inferred relationship	Existential restriction modifier (core metadata concept)

Reference Sets

Concept inactivation indicator attribute value reference set (foundation metadata concept)

SAME AS association reference set (foundation metadata concept)