715215007: Chromosome 11p13 deletion syndrome (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\11p partial monosomy syndrome\WAGR syndrome
• \Anomaly of chromosome pair 11\Deletion of part of chromosome 11\11p partial monosomy syndrome\WAGR 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\11p partial monosomy syndrome\WAGR syndrome
• \Anomaly of chromosome pair 11\Deletion of part of chromosome 11\11p partial monosomy syndrome\WAGR syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1719821000168116	WAGR (Wilms tumour, aniridia, genitourinary anomalies and intellectual disability) syndrome	en	Synonym	Active	Case sensitive	SNOMED Clinical Terms Australian extension
3301886014	Chromosome 11p13 deletion syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3301887017	Chromosome 11p13 deletion syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3301888010	Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3301889019	WAGR (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3301890011	WAGR syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3301891010	WAGR (Wilms tumour, aniridia, genitourinary anomalies and mental retardation) syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3301892015	Wilms tumour, aniridia, genitourinary anomalies and mental retardation syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3301960017	Syndrome associated with an increased risk of developing Wilms tumor, which can occur at any age, and with total or partial aniridia with possible glaucoma or cataract, genitourinary disorders ranging from sexual ambiguity to ectopia testis, and variable degrees of intellectual deficit. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11, the microdeletion is de novo in most cases, but it may result from an inherited parental translocation.	en	Definition	Active	Case sensitive	SNOMED CT core
3301961018	Syndrome associated with an increased risk of developing Wilms tumour, which can occur at any age, and with total or partial aniridia with possible glaucoma or cataract, genitourinary disorders ranging from sexual ambiguity to ectopia testis, and variable degrees of intellectual deficit. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11, the microdeletion is de novo in most cases, but it may result from an inherited parental translocation.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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