718688008: Distal monosomy 6p (disorder)

• SNOMED CT Concept\Clinical finding\Disease\...
• \Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 6\Deletion of part of short arm of chromosome 6\Distal monosomy 6p
• \Anomaly of chromosome pair 6\Deletion of part of chromosome 6\Deletion of part of short arm of chromosome 6\Distal monosomy 6p
• \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\Deletion of part of short arm of chromosome 6\Distal monosomy 6p
• \Anomaly of chromosome pair 6\Deletion of part of chromosome 6\Deletion of part of short arm of chromosome 6\Distal monosomy 6p

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3313222015	Distal deletion 6p	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3313225018	Distal monosomy 6p (disorder)	en	Fully specified name	Active	Initial character case insensitive	SNOMED CT core
3313226017	Distal monosomy 6p	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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