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81304006: syndroom van partiële monosomie 7q (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
4571153015 7q partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4571154014 7q partial monosomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
7876391000146115 partiële monosomie 7q nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8026721000146113 partiële monosomie van lange 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)
8026731000146110 syndroom van partiële monosomie 7q (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8026741000146119 syndroom van partiële monosomie 7q 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
7q partial monosomy Is a Deletion of part of autosome false Inferred relationship Some
7q partial monosomy Is a Anomaly of chromosome pair 7 false Inferred relationship Some
7q partial monosomy Associated morphology Monosomy false Inferred relationship Some
7q partial monosomy Finding site Sex chromosome false Inferred relationship Some
7q partial monosomy Occurrence Congenital false Inferred relationship Some
7q partial monosomy Finding site Chromosome pair 7 false Inferred relationship Some 1
7q partial monosomy Associated morphology Deletion of long arm false Inferred relationship Some
7q partial monosomy Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 1
7q partial monosomy Finding site Chromosome pair 7 false Inferred relationship Some 1
7q partial monosomy Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some
7q partial monosomy Occurrence Congenital true Inferred relationship Some 2
7q partial monosomy Occurrence Congenital true Inferred relationship Some 1
7q partial monosomy Finding site Chromosome pair 7 true Inferred relationship Some 1
7q partial monosomy Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 2
7q partial monosomy Finding site Chromosome pair 7 false Inferred relationship Some 2
7q partial monosomy Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Some 1
7q partial monosomy Associated morphology Deletion of long arm false Inferred relationship Some 2
7q partial monosomy Is a Deletion of part of chromosome 7 (disorder) true Inferred relationship Some
7q partial monosomy Finding site Long arm of chromosome true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal monosomy 7q36 syndrome (disorder) Is a False 7q partial monosomy Inferred relationship Some
Distal 7q11.23 microdeletion syndrome (disorder) Is a False 7q partial monosomy Inferred relationship Some
7q31 microdeletion syndrome (disorder) Is a True 7q partial monosomy Inferred relationship Some
Williams syndrome Is a True 7q partial monosomy Inferred relationship Some
Distal deletion of long arm of chromosome 7 Is a True 7q partial monosomy Inferred relationship Some
Medial deletion of long arm of chromosome 7 (disorder) Is a True 7q partial monosomy Inferred relationship Some
Proximal deletion of long arm of chromosome 7 (disorder) Is a True 7q partial monosomy Inferred relationship Some

This concept is not in any reference sets

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