719663005: 6q25 microdeletion syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\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 6 (disorder)\Deletion of part of long arm of chromosome 6 (disorder)\6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

\Anomaly of chromosome pair 6\Deletion of part of chromosome 6 (disorder)\Deletion of part of long arm of chromosome 6 (disorder)\6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

\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 6 (disorder)\Deletion of part of long arm of chromosome 6 (disorder)\6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

\Anomaly of chromosome pair 6\Deletion of part of chromosome 6 (disorder)\Deletion of part of long arm of chromosome 6 (disorder)\6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

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

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

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

995271000172110 syndrome de microdélétion 6q25 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1018781000172119 del(6)(q25) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3409001001000117 Mikrodeletionssyndrom 6q25 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.	Is a	Anomaly of chromosome pair 6	false	Inferred relationship	Some
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.	Is a	Deletion of part of autosome	false	Inferred relationship	Some
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.	Occurrence	Congenital	true	Inferred relationship	Some	2
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.	Finding site	Chromosome pair 6	true	Inferred relationship	Some	2
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.	Occurrence	Congenital	true	Inferred relationship	Some	3
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.	Finding site	Chromosome pair 6	true	Inferred relationship	Some	3
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.	Associated morphology	Deletion of long arm	true	Inferred relationship	Some	2
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	3
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.	Is a	Deletion of part of long arm of chromosome 6 (disorder)	true	Inferred relationship	Some

Inbound Relationships

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Reference Sets

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