1153430004: partiële deletie van lange arm van chromosoom 14 (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 14 (disorder)\Partial deletion of long arm of chromosome 14 (disorder)

\Anomaly of chromosome pair 14\Deletion of part of chromosome 14 (disorder)\Partial deletion of long arm of chromosome 14 (disorder)

\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 14 (disorder)\Partial deletion of long arm of chromosome 14 (disorder)

\Anomaly of chromosome pair 14\Deletion of part of chromosome 14 (disorder)\Partial deletion of long arm of chromosome 14 (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4564290013 Partial deletion of chromosome 14q en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4564291012 Partial deletion of long arm of chromosome 14 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4564292017 Partial deletion of long arm of chromosome 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
12899151000146111 partiële deletie van lange arm van chromosoom 14 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12899161000146114 partiële chromosoom14q-deletie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12899171000146115 partiële deletie van lange arm van chromosoom 14 (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
Partial deletion of long arm of chromosome 14 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Partial deletion of long arm of chromosome 14 (disorder)	Is a	Deletion of part of chromosome 14 (disorder)	true	Inferred relationship	Some
Partial deletion of long arm of chromosome 14 (disorder)	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
Partial deletion of long arm of chromosome 14 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Partial deletion of long arm of chromosome 14 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	2
Partial deletion of long arm of chromosome 14 (disorder)	Finding site	Chromosome pair 14	true	Inferred relationship	Some	2
Partial deletion of long arm of chromosome 14 (disorder)	Associated morphology	Partial monosomy (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
14q22q23 microdeletion syndrome	Is a	True	Partial deletion of long arm of chromosome 14 (disorder)	Inferred relationship	Some
14q11.2 microdeletion syndrome (disorder)	Is a	True	Partial deletion of long arm of chromosome 14 (disorder)	Inferred relationship	Some
14q24.1q24.3 microdeletion syndrome	Is a	True	Partial deletion of long arm of chromosome 14 (disorder)	Inferred relationship	Some
14q12 microdeletion syndrome (disorder)	Is a	True	Partial deletion of long arm of chromosome 14 (disorder)	Inferred relationship	Some
14q32 deletion syndrome	Is a	True	Partial deletion of long arm of chromosome 14 (disorder)	Inferred relationship	Some
Distal monosomy 14q syndrome (disorder)	Is a	True	Partial deletion of long arm of chromosome 14 (disorder)	Inferred relationship	Some
Paternal 14q32.2 microdeletion (disorder)	Is a	True	Partial deletion of long arm of chromosome 14 (disorder)	Inferred relationship	Some

This concept is not in any reference sets