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81304006: 7q partial monosomy (disorder)

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
134876018 7q partial monosomy syndrome en Synonym (core metadata concept) Inactive Entire term case insensitive (core metadata concept) SNOMED CT core
822561018 7q partial monosomy syndrome (disorder) en Fully specified name Inactive Entire term case insensitive (core metadata concept) SNOMED CT core
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
4655911000241119 monosomie partielle 7q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

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 anomalie congénitale false Inferred relationship Some 1
7q partial monosomy Finding site Chromosome pair 7 false Inferred relationship Some 1
7q partial monosomy Associated morphology anomalie congénitale 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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