1003394000: mediale deletie van lange arm van chromosoom 2 (aandoening)

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

\Disorder of foetus and/or newborn\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 2 (disorder)\Deletion of part of long arm of chromosome 2 (disorder)\Medial deletion of long arm of chromosome 2

\Anomaly of chromosome pair 2\Deletion of part of chromosome 2 (disorder)\Deletion of part of long arm of chromosome 2 (disorder)\Medial deletion of long arm of chromosome 2

\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 2 (disorder)\Deletion of part of long arm of chromosome 2 (disorder)\Medial deletion of long arm of chromosome 2

\Anomaly of chromosome pair 2\Deletion of part of chromosome 2 (disorder)\Deletion of part of long arm of chromosome 2 (disorder)\Medial deletion of long arm of chromosome 2

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4168149017 Medial deletion of long arm of chromosome 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4168150017 Medial deletion of long arm of chromosome 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

12275831000146111 mediale deletie van lange arm van chromosoom 2 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

12275841000146115 mediale deletie van lange arm van chromosoom 2 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Medial deletion of long arm of chromosome 2	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1
Medial deletion of long arm of chromosome 2	Occurrence	Congenital	true	Inferred relationship	Some	1
Medial deletion of long arm of chromosome 2	Finding site	Chromosome pair 2	true	Inferred relationship	Some	1
Medial deletion of long arm of chromosome 2	Associated morphology	Deletion of long arm	false	Inferred relationship	Some	2
Medial deletion of long arm of chromosome 2	Occurrence	Congenital	true	Inferred relationship	Some	2
Medial deletion of long arm of chromosome 2	Is a	Deletion of part of long arm of chromosome 2 (disorder)	true	Inferred relationship	Some
Medial deletion of long arm of chromosome 2	Finding site	Chromosome pair 2	false	Inferred relationship	Some	2
Medial deletion of long arm of chromosome 2	Finding site	Long arm of chromosome	true	Inferred relationship	Some	2
Medial deletion of long arm of chromosome 2	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

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This concept is not in any reference sets