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24786004: syndroom van partiële monosomie 7p (aandoening)

Status: current, 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
41537012 7p partial monosomy syndrome en Synonym (core metadata concept) Inactive Entire term case insensitive (core metadata concept) SNOMED CT core
754461018 7p partial monosomy syndrome (disorder) en Fully specified name Inactive Entire term case insensitive (core metadata concept) SNOMED CT core
4571150017 7p partial monosomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4571151018 7p partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
8026661000146110 syndroom van partiële monosomie 7p (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8026671000146116 partiële monosomie 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)
8026681000146119 partiële monosomie 7p nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8026691000146117 syndroom van partiële monosomie 7p 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
7p partial monosomy (disorder) Is a Anomaly of chromosome pair 7 false Inferred relationship Some
7p partial monosomy (disorder) Is a Deletion of part of autosome false Inferred relationship Some
7p partial monosomy (disorder) Finding site Sex chromosome false Inferred relationship Some
7p partial monosomy (disorder) Occurrence Congenital false Inferred relationship Some
7p partial monosomy (disorder) Finding site Chromosome pair 7 false Inferred relationship Some 1
7p partial monosomy (disorder) Associated morphology Deletion of short arm false Inferred relationship Some
7p partial monosomy (disorder) Associated morphology Monosomy false Inferred relationship Some
7p partial monosomy (disorder) Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 1
7p partial monosomy (disorder) Finding site Chromosome pair 7 false Inferred relationship Some 1
7p partial monosomy (disorder) Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some
7p partial monosomy (disorder) Occurrence Congenital true Inferred relationship Some 1
7p partial monosomy (disorder) Finding site Chromosome pair 7 false Inferred relationship Some 1
7p partial monosomy (disorder) Associated morphology Deletion of short arm false Inferred relationship Some 1
7p partial monosomy (disorder) Occurrence Congenital true Inferred relationship Some 2
7p partial monosomy (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
7p partial monosomy (disorder) Finding site Chromosome pair 7 true Inferred relationship Some 2
7p partial monosomy (disorder) Is a Deletion of part of chromosome 7 (disorder) true Inferred relationship Some
7p partial monosomy (disorder) Is a Congenital malformation false Inferred relationship Some
7p partial monosomy (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
7p partial monosomy (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
7p partial monosomy (disorder) Associated morphology Deletion of short arm false Inferred relationship Some 2
7p partial monosomy (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
7p partial monosomy (disorder) Finding site Short arm of chromosome true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal monosomy 7p syndrome (disorder) Is a True 7p partial monosomy (disorder) Inferred relationship Some
7p12-p14 deletion syndrome Is a True 7p partial monosomy (disorder) Inferred relationship Some
7p21.1 deletion syndrome Is a True 7p partial monosomy (disorder) Inferred relationship Some
Proximal deletion of short arm of chromosome 7 (disorder) Is a True 7p partial monosomy (disorder) Inferred relationship Some

This concept is not in any reference sets

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