715215007: Chromosome 11p13 deletion syndrome (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 11 (disorder)\11p partial monosomy syndrome\Chromosome 11p13 deletion syndrome (disorder)

\Anomaly of chromosome pair 11 (disorder)\Deletion of part of chromosome 11 (disorder)\11p partial monosomy syndrome\Chromosome 11p13 deletion syndrome (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 11 (disorder)\11p partial monosomy syndrome\Chromosome 11p13 deletion syndrome (disorder)

\Anomaly of chromosome pair 11 (disorder)\Deletion of part of chromosome 11 (disorder)\11p partial monosomy syndrome\Chromosome 11p13 deletion syndrome (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

3301886014 Chromosome 11p13 deletion syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3301887017 Chromosome 11p13 deletion syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3301888010 Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3301889019 WAGR (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3301890011 WAGR syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3301891010 WAGR (Wilms tumour, aniridia, genitourinary anomalies and mental retardation) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3301892015 Wilms tumour, aniridia, genitourinary anomalies and mental retardation syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

7770351000172116 syndrome de délétion chromosomique 11p13 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7770361000172119 syndrome de tumeur de Wilms, aniridie, anomalies génito-urinaires et retard mental fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7770371000172111 syndrome WAGR (Wilms tumor, aniridia, genitourinary anomalies, mental retardation) fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

7465211000172119 WAGR-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

7465221000172112 chromosoom 11p13-deletiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

7465231000172110 syndroom van Wilms-tumor, aniridie, genito-urinaire malformatie en mentale retardatie nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chromosome 11p13 deletion syndrome (disorder)	Associated morphology	Monosomy	false	Inferred relationship	Some	4
Chromosome 11p13 deletion syndrome (disorder)	Is a	11p partial monosomy syndrome	true	Inferred relationship	Some
Chromosome 11p13 deletion syndrome (disorder)	Associated morphology	Nephroblastoma	false	Inferred relationship	Some	3
Chromosome 11p13 deletion syndrome (disorder)	Finding site	Structure of parenchyma of kidney	false	Inferred relationship	Some	3
Chromosome 11p13 deletion syndrome (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	5
Chromosome 11p13 deletion syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Chromosome 11p13 deletion syndrome (disorder)	Finding site	Iris structure	false	Inferred relationship	Some	5
Chromosome 11p13 deletion syndrome (disorder)	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	2
Chromosome 11p13 deletion syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Chromosome 11p13 deletion syndrome (disorder)	Finding site	Chromosome pair 11	false	Inferred relationship	Some	2
Chromosome 11p13 deletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Chromosome 11p13 deletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Chromosome 11p13 deletion syndrome (disorder)	Finding site	Iris structure	false	Inferred relationship	Some	1
Chromosome 11p13 deletion syndrome (disorder)	Associated morphology	Absence (morphologic abnormality)	false	Inferred relationship	Some	1
Chromosome 11p13 deletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Chromosome 11p13 deletion syndrome (disorder)	Finding site	Chromosome pair 11	true	Inferred relationship	Some	1
Chromosome 11p13 deletion syndrome (disorder)	Finding site	Chromosome pair 11	true	Inferred relationship	Some	2
Chromosome 11p13 deletion syndrome (disorder)	Associated morphology	Deletion of short arm	true	Inferred relationship	Some	2
Chromosome 11p13 deletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3301886014	Chromosome 11p13 deletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3301887017	Chromosome 11p13 deletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3301888010	Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3301889019	WAGR (Wilms tumor, aniridia, genitourinary anomalies and mental retardation) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3301890011	WAGR syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3301891010	WAGR (Wilms tumour, aniridia, genitourinary anomalies and mental retardation) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3301892015	Wilms tumour, aniridia, genitourinary anomalies and mental retardation syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
7770351000172116	syndrome de délétion chromosomique 11p13	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7770361000172119	syndrome de tumeur de Wilms, aniridie, anomalies génito-urinaires et retard mental	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7770371000172111	syndrome WAGR (Wilms tumor, aniridia, genitourinary anomalies, mental retardation)	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
7465211000172119	WAGR-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
7465221000172112	chromosoom 11p13-deletiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
7465231000172110	syndroom van Wilms-tumor, aniridie, genito-urinaire malformatie en mentale retardatie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)