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82751009: syndroom van partiële trisomie 7p (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
4555207010 7p partial trisomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555208017 7p partial trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
7965061000146118 syndroom van partiële trisomie 7p nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7965071000146112 syndroom van partiële trisomie 7p (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7965081000146114 partiële trisomie van chromosoom 7p nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
7965091000146111 partiële trisomie van korte arm van chromosoom 7 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
7p partial trisomy (disorder) Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
7p partial trisomy (disorder) Is a Anomaly of chromosome pair 7 false Inferred relationship Some
7p partial trisomy (disorder) Finding site Sex chromosome false Inferred relationship Some
7p partial trisomy (disorder) Occurrence Congenital false Inferred relationship Some
7p partial trisomy (disorder) Finding site Chromosome pair 7 false Inferred relationship Some 1
7p partial trisomy (disorder) Associated morphology Trisomy false Inferred relationship Some
7p partial trisomy (disorder) Associated morphology Alteration of chromosome structure false Inferred relationship Some
7p partial trisomy (disorder) Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 1
7p partial trisomy (disorder) Finding site Chromosome pair 7 false Inferred relationship Some 1
7p partial trisomy (disorder) Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some
7p partial trisomy (disorder) Occurrence Congenital true Inferred relationship Some 1
7p partial trisomy (disorder) Finding site Chromosome pair 7 true Inferred relationship Some 1
7p partial trisomy (disorder) Associated morphology Partial trisomy true Inferred relationship Some 1
7p partial trisomy (disorder) Is a Partial trisomy of chromosome 7 (disorder) true Inferred relationship Some
7p partial trisomy (disorder) Occurrence Congenital true Inferred relationship Some 2
7p partial trisomy (disorder) Finding site Short arm of chromosome true Inferred relationship Some 2
7p partial trisomy (disorder) Associated morphology Partial trisomy true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal trisomy 7p syndrome (disorder) Is a True 7p partial trisomy (disorder) Inferred relationship Some
7p22.1 microduplication syndrome (disorder) Is a True 7p partial trisomy (disorder) Inferred relationship Some
Proximal duplication of short arm of chromosome 7 Is a True 7p partial trisomy (disorder) Inferred relationship Some

This concept is not in any reference sets

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