773346008: 20p13-microdeletiesyndroom (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

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

\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

\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

\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:

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

7872261000146118 20p13-microdeletiesyndroom (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7872271000146112 20p13-microdeletiesyndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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

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

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This concept is not in any reference sets