718688008: Distal monosomy 6p (disorder)

• SNOMED CT Concept\Clinical finding (finding)\Disease\...
• \Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 6 (disorder)\Deletion of part of short arm of chromosome 6 (disorder)\Distal monosomy 6p (disorder)
• \Anomaly of chromosome pair 6\Deletion of part of chromosome 6 (disorder)\Deletion of part of short arm of chromosome 6 (disorder)\Distal monosomy 6p (disorder)
• \Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 6 (disorder)\Deletion of part of short arm of chromosome 6 (disorder)\Distal monosomy 6p (disorder)
• \Anomaly of chromosome pair 6\Deletion of part of chromosome 6 (disorder)\Deletion of part of short arm of chromosome 6 (disorder)\Distal monosomy 6p (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
3313222015	Distal deletion 6p	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313225018	Distal monosomy 6p (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313226017	Distal monosomy 6p	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3313223013	Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Pure deletions have been described in less than 10 patients. Breakpoints are within 6p24-pter subtelomeric bands.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3313224019	Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognisable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism. Pure deletions have been described in less than 10 patients. Breakpoints are within 6p24-pter subtelomeric bands.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
909921000172117	délétion distale 6p	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
918651000172111	monosomie distale 6p	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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