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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Genetic syndrome	Is a	multisysteemaandoening	false	Inferred relationship	Some
Genetic syndrome	Is a	Hereditary disease	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
DNA instability syndrome	Is a	False	Genetic syndrome	Inferred relationship	Some
Maturity onset diabetes of the young, type 2 (disorder)	Associated with	False	Genetic syndrome	Inferred relationship	Some
Hyperproinsulinaemia	Associated with	False	Genetic syndrome	Inferred relationship	Some
Maternally inherited diabetes and deafness (disorder)	Associated with	False	Genetic syndrome	Inferred relationship	Some
Impaired glucose tolerance associated with genetic syndrome	Associated with	False	Genetic syndrome	Inferred relationship	Some
Maturity onset diabetes mellitus in young	Associated with	False	Genetic syndrome	Inferred relationship	Some
Diabetes mellitus associated with genetic syndrome	Associated with	False	Genetic syndrome	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 2	Associated with	False	Genetic syndrome	Inferred relationship	Some
Rabson-Mendenhall syndrome	Associated with	False	Genetic syndrome	Inferred relationship	Some
Wolfram syndrome	Associated with	False	Genetic syndrome	Inferred relationship	Some
IPEX-syndroom (aandoening)	Associated with	False	Genetic syndrome	Inferred relationship	Some
Renal cysts and diabetes syndrome	Associated with	False	Genetic syndrome	Inferred relationship	Some
Atherosclerosis, deafness, diabetes, epilepsy, nephropathy syndrome (disorder)	Due to	False	Genetic syndrome	Inferred relationship	Some
Laminopathy type Decaudain Vigouroux	Due to	False	Genetic syndrome	Inferred relationship	Some
Wolfram-like syndrome (disorder)	Due to	False	Genetic syndrome	Inferred relationship	Some
Complicated diabetes-deafness syndrome maternally inherited (disorder)	Associated with	False	Genetic syndrome	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)