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36369001: syndroom van partiële monosomie 1p (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
60698010 1p partial monosomy syndrome en Synonym (core metadata concept) Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
768113011 1p partial monosomy syndrome (disorder) en Fully specified name Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
4555211016 1p partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555212011 1p partial monosomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555213018 Partial deletion of the short arm of chromosome 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
8026311000146119 syndroom van partiële monosomie 1p (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8026321000146112 syndroom van partiële monosomie 1p nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8026331000146114 partiële monosomie van korte arm van chromosoom 1 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8026341000146118 partiële monosomie 1p nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
1p partial monosomy Is a Anomaly of chromosome pair 1 false Inferred relationship Some
1p partial monosomy Is a Deletion of part of autosome false Inferred relationship Some
1p partial monosomy Occurrence Congenital false Inferred relationship Some
1p partial monosomy Finding site Sex chromosome false Inferred relationship Some
1p partial monosomy Finding site Chromosome pair 1 false Inferred relationship Some 1
1p partial monosomy Associated morphology Deletion of short arm false Inferred relationship Some
1p partial monosomy Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 1
1p partial monosomy Finding site Chromosome pair 1 false Inferred relationship Some 1
1p partial monosomy Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some
1p partial monosomy Occurrence Congenital true Inferred relationship Some 1
1p partial monosomy Finding site Chromosome pair 1 true Inferred relationship Some 1
1p partial monosomy Occurrence Congenital true Inferred relationship Some 2
1p partial monosomy Finding site Chromosome pair 1 false Inferred relationship Some 2
1p partial monosomy Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
1p partial monosomy Associated morphology Deletion of short arm false Inferred relationship Some 2
1p partial monosomy Is a Deletion of part of chromosome 1 (disorder) true Inferred relationship Some
1p partial monosomy Finding site Short arm of chromosome true Inferred relationship Some 2
1p partial monosomy Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
1p21.3 microdeletion syndrome (disorder) Is a True 1p partial monosomy Inferred relationship Some
Chromosome 1p36 deletion syndrome (disorder) Is a True 1p partial monosomy Inferred relationship Some
1p31p32 microdeletion syndrome Is a True 1p partial monosomy Inferred relationship Some
Distal deletion of short arm of chromosome 1 (disorder) Is a True 1p partial monosomy Inferred relationship Some
Medial deletion of short arm of chromosome 1 Is a True 1p partial monosomy Inferred relationship Some
Proximal deletion of short arm of chromosome 1 Is a True 1p partial monosomy Inferred relationship Some
1p35.2 microdeletion syndrome Is a True 1p partial monosomy Inferred relationship Some

This concept is not in any reference sets

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