715438008: Distal partial deletion of long arm of chromosome 11 (disorder)

• SNOMED CT Concept\constatation clinique\Disease\...
• \anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 11 (disorder)\Distal partial deletion of long arm of chromosome 11 (disorder)
• \Anomaly of chromosome pair 11\Deletion of part of chromosome 11 (disorder)\Distal partial deletion of long arm of chromosome 11 (disorder)
• \Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\...
• \Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 11 (disorder)\Distal partial deletion of long arm of chromosome 11 (disorder)
• \Anomaly of chromosome pair 11\Deletion of part of chromosome 11 (disorder)\Distal partial deletion of long arm of chromosome 11 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302629016	Distal partial deletion of long arm of chromosome 11	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302630014	Jacobsen syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3302631013	Distal deletion 11q	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3302632018	Distal monosomy 11q	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3304046018	A multiple congenital anomaly/mental retardation 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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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