715438008: Distal partial deletion of long arm of chromosome 11 (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 11\Jacobsen syndrome
• \Anomaly of chromosome pair 11\Deletion of part of chromosome 11\Jacobsen syndrome
• \Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 11\Jacobsen syndrome
• \Anomaly of chromosome pair 11\Deletion of part of chromosome 11\Jacobsen syndrome

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3302628012	Distal partial deletion of long arm of chromosome 11 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3302629016	Distal partial deletion of long arm of chromosome 11	en	Synonym	Active	Case insensitive	SNOMED CT core
3302630014	Jacobsen syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3302631013	Distal deletion 11q	en	Synonym	Active	Case insensitive	SNOMED CT core
3302632018	Distal monosomy 11q	en	Synonym	Active	Case insensitive	SNOMED CT core
5155294012	A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. The most common clinical features include pre and postnatal growth retardation, psychomotor retardation, facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, a broad nasal bridge, short nose, V-shaped mouth, and small, low-set and posteriorly rotated ears).	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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