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7586009: syndroom van partiële trisomie 14q (aandoening)

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
4564198014 14q partial trisomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4564203018 14q partial trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
7949521000146112 syndroom van partiële trisomie 14q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7949531000146114 partiële trisomie van chromosoom 14q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7949551000146115 syndroom van partiële trisomie 14q (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8034031000146118 partiële trisomie 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)

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
14q partial trisomy (disorder) Is a Anomaly of chromosome pair 14 false Inferred relationship Some
14q partial trisomy (disorder) Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
14q partial trisomy (disorder) Finding site Chromosome pair 14 false Inferred relationship Some 1
14q partial trisomy (disorder) Finding site Sex chromosome false Inferred relationship Some
14q partial trisomy (disorder) Occurrence Congenital false Inferred relationship Some
14q partial trisomy (disorder) Associated morphology Alteration of chromosome structure false Inferred relationship Some
14q partial trisomy (disorder) Associated morphology Trisomy false Inferred relationship Some
14q partial trisomy (disorder) Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 1
14q partial trisomy (disorder) Finding site Chromosome pair 14 false Inferred relationship Some 1
14q partial trisomy (disorder) Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some
14q partial trisomy (disorder) Occurrence Congenital true Inferred relationship Some 1
14q partial trisomy (disorder) Finding site Chromosome pair 14 true Inferred relationship Some 1
14q partial trisomy (disorder) Associated morphology Partial trisomy true Inferred relationship Some 1
14q partial trisomy (disorder) Is a Partial trisomy of chromosome 14 (disorder) true Inferred relationship Some
14q partial trisomy (disorder) Occurrence Congenital true Inferred relationship Some 2
14q partial trisomy (disorder) Finding site Long arm of chromosome true Inferred relationship Some 2
14q partial trisomy (disorder) Associated morphology Partial trisomy true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
14q partial distal trisomy syndrome Is a True 14q partial trisomy (disorder) Inferred relationship Some
14q partial proximal trisomy syndrome Is a True 14q partial trisomy (disorder) Inferred relationship Some
14q11.2 microduplication syndrome (disorder) Is a True 14q partial trisomy (disorder) Inferred relationship Some
14q32 duplication syndrome Is a True 14q partial trisomy (disorder) Inferred relationship Some

This concept is not in any reference sets

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