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719661007: 5q14.3 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5402193010 The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3317285016 5q14.3 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317286015 5q14.3 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317287012 Monosomy 5q14.3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
989581000172113 del(5)(q14.3) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
998731000172112 syndrome de microdélétion 5q14.3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3435801001000118 Mikrodeletionssyndrom 5q14.3 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Is a Anomaly of chromosome pair 5 false Inferred relationship Some
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Is a Deletion of part of autosome false Inferred relationship Some
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Occurrence Congenital true Inferred relationship Some 2
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Finding site Chromosome pair 5 false Inferred relationship Some 2
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Occurrence Congenital false Inferred relationship Some 3
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Finding site Chromosome pair 5 false Inferred relationship Some 3
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Associated morphology Deletion of long arm false Inferred relationship Some 2
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Associated morphology Partial monosomy (morphologic abnormality) false Inferred relationship Some 3
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Is a Deletion of part of long arm of chromosome 5 (disorder) true Inferred relationship Some
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Occurrence Congenital true Inferred relationship Some 1
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Finding site Long arm of chromosome true Inferred relationship Some 2
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Is a Multiple system malformation syndrome true Inferred relationship Some
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. Finding site Chromosome pair 5 true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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