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719663005: 6q25 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
3317293016 6q25 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317294010 6q25 microdeletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3317295011 Monosomy 6q25 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5402195015 6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402196019 6q25 microdeletion syndrome is a recently described syndrome characterised by developmental delay, facial dysmorphism and hearing loss. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
6q25 microdeletion syndrome (disorder) Is a Anomaly of chromosome pair 6 false Inferred relationship Some
6q25 microdeletion syndrome (disorder) Is a Deletion of part of autosome false Inferred relationship Some
6q25 microdeletion syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
6q25 microdeletion syndrome (disorder) Finding site Chromosome pair 6 true Inferred relationship Some 2
6q25 microdeletion syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
6q25 microdeletion syndrome (disorder) Finding site Chromosome pair 6 true Inferred relationship Some 3
6q25 microdeletion syndrome (disorder) Associated morphology Deletion of long arm true Inferred relationship Some 2
6q25 microdeletion syndrome (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 3
6q25 microdeletion syndrome (disorder) Is a Deletion of part of long arm of chromosome 6 (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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