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

130811000077112 syndrome génétique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

403601000077111 syndrome génétique (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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
syndrome génétique	est un(e) (attribut)	Multisystem disorder (disorder)	false	Inferred relationship	Some
syndrome génétique	est un(e) (attribut)	maladie héréditaire	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
DNA instability syndrome	est un(e) (attribut)	False	syndrome génétique	Inferred relationship	Some
Maturity onset diabetes of the young, type 2 (disorder)	associé à (attribut)	False	syndrome génétique	Inferred relationship	Some
Hyperproinsulinaemia	associé à (attribut)	False	syndrome génétique	Inferred relationship	Some
Diabetes-deafness syndrome maternally transmitted	associé à (attribut)	False	syndrome génétique	Inferred relationship	Some
intolérance au glucose associée à un syndrome génétique	associé à (attribut)	False	syndrome génétique	Inferred relationship	Some
Maturity onset diabetes mellitus in young	associé à (attribut)	False	syndrome génétique	Inferred relationship	Some
Diabetes mellitus associated with genetic syndrome	associé à (attribut)	False	syndrome génétique	Inferred relationship	Some
Polyglandular autoimmune syndrome, type 2	associé à (attribut)	False	syndrome génétique	Inferred relationship	Some
Rabson-Mendenhall syndrome	associé à (attribut)	False	syndrome génétique	Inferred relationship	Some
diabète sucré et diabète insipide avec atrophie optique et surdité	associé à (attribut)	False	syndrome génétique	Inferred relationship	Some
Insulin-dependent diabetes mellitus secretory diarrhea syndrome	associé à (attribut)	False	syndrome génétique	Inferred relationship	Some
Renal cysts and diabetes syndrome (disorder)	associé à (attribut)	False	syndrome génétique	Inferred relationship	Some
syndrome d'athérosclérose, surdité, épilepsie, diabète, néphropathie	Due to	False	syndrome génétique	Inferred relationship	Some
Laminopathy type Decaudain Vigouroux (disorder)	Due to	False	syndrome génétique	Inferred relationship	Some
Wolfram-like syndrome (disorder)	Due to	False	syndrome génétique	Inferred relationship	Some

Reference Sets

Canada English language reference set (foundation metadata concept)

Concept inactivation indicator reference set

Description inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)