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719650004: 20p12.3 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
5402181018 20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402182013 20p12.3 microdeletion syndrome is a recently described syndrome characterised by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3317243015 20p12.3 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317244014 20p12.3 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317245010 Monosomy 20p12.3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
876911000172116 syndrome de microdélétion 20p12.3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
989201000172116 del(20)(p12.3) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3423481001000113 Mikrodeletionssyndrom 20p12.3 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
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Is a Anomaly of chromosome pair 20 false Inferred relationship Some
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Is a Deletion of part of autosome false Inferred relationship Some
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Occurrence Congenital true Inferred relationship Some 2
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Finding site Chromosome pair 20 false Inferred relationship Some 2
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Occurrence Congenital false Inferred relationship Some 3
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Finding site Chromosome pair 20 false Inferred relationship Some 3
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Associated morphology Deletion of short arm false Inferred relationship Some 3
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Is a Deletion of part of short arm of chromosome 20 (disorder) true Inferred relationship Some
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Occurrence Congenital true Inferred relationship Some 1
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Is a Multiple system malformation syndrome true Inferred relationship Some
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Finding site Chromosome pair 20 true Inferred relationship Some 1
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome, variable developmental delay and facial dysmorphism. Finding site Short arm of chromosome true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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