733520002: 20q13.33 microdeletion 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 20 (disorder)\Deletion of part of long arm of chromosome 20 (disorder)\20q13.33 microdeletion syndrome (disorder)

\Anomaly of chromosome pair 20\Deletion of part of chromosome 20 (disorder)\Deletion of part of long arm of chromosome 20 (disorder)\20q13.33 microdeletion syndrome (disorder)

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\20q13.33 microdeletion 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 20 (disorder)\Deletion of part of long arm of chromosome 20 (disorder)\20q13.33 microdeletion syndrome (disorder)
\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 20\Deletion of part of chromosome 20 (disorder)\Deletion of part of long arm of chromosome 20 (disorder)\20q13.33 microdeletion syndrome (disorder)

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\20q13.33 microdeletion syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3499598013 20q13.33 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3499599017 Monosomy 20q13.33 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3499600019 20q13.33 microdeletion syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3500026011 A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20. The disorder has a highly variable phenotype with typical characteristics of hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

894261000172112 syndrome de microdélétion 20q13.33 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

984841000172116 del(20)(q13.33) fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

877571000172115 20q13.33 microdeletiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

992361000172116 del(20)(q13.33) nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
20q13.33 microdeletion syndrome (disorder)	Is a	Deletion of part of long arm of chromosome 20 (disorder)	true	Inferred relationship	Some
20q13.33 microdeletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
20q13.33 microdeletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
20q13.33 microdeletion syndrome (disorder)	Finding site	Chromosome pair 20	false	Inferred relationship	Some	2
20q13.33 microdeletion syndrome (disorder)	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	3
20q13.33 microdeletion syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
20q13.33 microdeletion syndrome (disorder)	Finding site	Chromosome pair 20	false	Inferred relationship	Some	3
20q13.33 microdeletion syndrome (disorder)	Finding site	Chromosome pair 20	true	Inferred relationship	Some	1
20q13.33 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
20q13.33 microdeletion syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
20q13.33 microdeletion syndrome (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
20q13.33 microdeletion syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
20q13.33 microdeletion syndrome (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
20q13.33 microdeletion syndrome (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

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Active

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Characteristic

Refinability

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Reference Sets

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3499598013	20q13.33 microdeletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3499599017	Monosomy 20q13.33	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3499600019	20q13.33 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3500026011	A rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 20. The disorder has a highly variable phenotype with typical characteristics of hypotonia, intellectual disability, cognitive and language deficits (including decreased or absent speech), pre and post-natal growth retardation, feeding difficulties, microcephaly, and malformed hands and feet. Neurodevelopmental disorders (including hyperactivity, social interactive problems and autism spectrum disorder), seizures and dysmorphic facial features (high forehead, hypertelorism, malformed ears, broad nasal bridge, bulbous nasal tip, thin upper lip, small chin) are frequently associated.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
894261000172112	syndrome de microdélétion 20q13.33	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
984841000172116	del(20)(q13.33)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
877571000172115	20q13.33 microdeletiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
992361000172116	del(20)(q13.33)	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)