768555009: 5q31.3 microdeletion syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of brain\Seizure\Seizure disorder\5q31.3 microdeletion syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Seizure disorder\5q31.3 microdeletion syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\5q31.3 microdeletion syndrome (disorder)

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\5q31.3 microdeletion syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\5q31.3 microdeletion syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\5q31.3 microdeletion syndrome (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\5q31.3 microdeletion syndrome (disorder)

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 5 (disorder)\Deletion of part of long arm of chromosome 5 (disorder)\5q31.3 microdeletion syndrome (disorder)
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Deletion of part of chromosome 5 (disorder)\Deletion of part of long arm of chromosome 5 (disorder)\5q31.3 microdeletion syndrome (disorder)
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 5 (disorder)\Deletion of part of long arm of chromosome 5 (disorder)\5q31.3 microdeletion syndrome (disorder)
\Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 5\Deletion of part of chromosome 5 (disorder)\Deletion of part of long arm of chromosome 5 (disorder)\5q31.3 microdeletion syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\5q31.3 microdeletion syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\5q31.3 microdeletion syndrome (disorder)
\Disease\Developmental disorder\5q31.3 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
5q31.3 microdeletion syndrome (disorder)	Is a	Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions.	false	Inferred relationship	Some
5q31.3 microdeletion syndrome (disorder)	Is a	Deletion of part of long arm of chromosome 5 (disorder)	true	Inferred relationship	Some
5q31.3 microdeletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
5q31.3 microdeletion syndrome (disorder)	Is a	Seizure disorder	true	Inferred relationship	Some
5q31.3 microdeletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
5q31.3 microdeletion syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
5q31.3 microdeletion syndrome (disorder)	Finding site	Chromosome pair 5	true	Inferred relationship	Some	1
5q31.3 microdeletion syndrome (disorder)	Finding site	Brain structure	false	Inferred relationship	Some	2
5q31.3 microdeletion syndrome (disorder)	Finding site	Chromosome pair 5	false	Inferred relationship	Some	3
5q31.3 microdeletion syndrome (disorder)	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	1
5q31.3 microdeletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	false	Inferred relationship	Some	3
5q31.3 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	4
5q31.3 microdeletion syndrome (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
5q31.3 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
5q31.3 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
5q31.3 microdeletion syndrome (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	3
5q31.3 microdeletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
5q31.3 microdeletion syndrome (disorder)	Is a	Multiple system malformation syndrome	false	Inferred relationship	Some
5q31.3 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
5q31.3 microdeletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
5q31.3 microdeletion syndrome (disorder)	Is a	Developmental disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3686034012	Severe neonatal hypotonia, seizures, encephalopathy syndrome due to 5q31.3 microdeletion	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686035013	5q31.3 microdeletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3686036014	5q31.3 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
7647551000241111	syndrome d'hypotonie, épilepsie et encéphalopathie sévère néonatale dû à une microdélétion 5q31.3	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7647561000241114	monosomie 5q31.3	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
7647571000241118	syndrome de microdélétion 5q31.3	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3450971001000114	Schwere neonatale Hypotonie-Krämpfe-Enzephalopathie-Syndrom durch Mikrodeletion 5q31.3	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module