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773346008: 20p13 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 short arm of chromosome 20 (disorder)\20p13 microdeletion syndrome

\Anomaly of chromosome pair 20\Deletion of part of chromosome 20 (disorder)\Deletion of part of short arm of chromosome 20 (disorder)\20p13 microdeletion syndrome

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\20p13 microdeletion syndrome
\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 short arm of chromosome 20 (disorder)\20p13 microdeletion syndrome
\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 short arm of chromosome 20 (disorder)\20p13 microdeletion syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\20p13 microdeletion syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
20p13 microdeletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
20p13 microdeletion syndrome	Associated morphology	Deletion of short arm	false	Inferred relationship	Some	1
20p13 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
20p13 microdeletion syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
20p13 microdeletion syndrome	Is a	Deletion of part of short arm of chromosome 20 (disorder)	true	Inferred relationship	Some
20p13 microdeletion syndrome	Finding site	Chromosome pair 20	true	Inferred relationship	Some	1
20p13 microdeletion syndrome	Finding site	Chromosome pair 20	false	Inferred relationship	Some	2
20p13 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
20p13 microdeletion syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
20p13 microdeletion syndrome	Finding site	Short arm of chromosome	true	Inferred relationship	Some	2
20p13 microdeletion syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
20p13 microdeletion syndrome	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3723250014	20p13 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723251013	20p subtelomeric deletion syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723252018	Monosomy 20p13	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723253011	20p13 microdeletion syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3723254017	A rare chromosomal anomaly with characteristics of developmental delay, mild to moderate intellectual disability, epilepsy, and unspecific dysmorphic signs. High palate, delayed permanent tooth eruption, hypoplastic fingernails, clinodactyly and short fingers have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
984801000172118	syndrome de microdélétion 20p13	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
1001921000172112	del(20)(p13)	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
933801000172114	20p13 microdeletiesyndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
952391000172115	20p subtelomerische deletie-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)