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30361005: 1q 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
4555235014 1q partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555236010 1q partial monosomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
50815014 1q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
50815014 1q partial monosomy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
50815014 1q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
761357011 1q partial monosomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
761357011 1q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
761357011 1q partial monosomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
761357011 1q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555235014 1q partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555236010 1q partial monosomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4488101000241115 monosomie partielle 1q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4488101000241115 monosomie partielle 1q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
1q partial monosomy (disorder) Is a Deletion of part of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
1q partial monosomy (disorder) Is a Anomaly of chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept)
1q partial monosomy (disorder) Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier (core metadata concept)
1q partial monosomy (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
1q partial monosomy (disorder) Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
1q partial monosomy (disorder) Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 2
1q partial monosomy (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
1q partial monosomy (disorder) Associated morphology Partial monosomy (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 1
1q partial monosomy (disorder) Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 1
1q partial monosomy (disorder) Associated morphology Partial monosomy (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept)
1q partial monosomy (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
1q partial monosomy (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
1q partial monosomy (disorder) Finding site Chromosome pair 1 true Inferred relationship Existential restriction modifier (core metadata concept) 1
1q partial monosomy (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
1q partial monosomy (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
1q partial monosomy (disorder) Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier (core metadata concept) 2
1q partial monosomy (disorder) Finding site Chromosome pair 1 false Inferred relationship Existential restriction modifier (core metadata concept) 2
1q partial monosomy (disorder) Is a Deletion of part of chromosome 1 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
1q partial monosomy (disorder) Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
1q partial monosomy (disorder) Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
1q21.1 microdeletion syndrome (disorder) Is a True 1q partial monosomy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
1q41q42 microdeletion syndrome Is a True 1q partial monosomy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
1q44 microdeletion syndrome (disorder) Is a True 1q partial monosomy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Medial deletion of long arm of chromosome 1 Is a True 1q partial monosomy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Proximal deletion of long arm of chromosome 1 (disorder) Is a True 1q partial monosomy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)
Distal monosomy 1q syndrome (disorder) Is a True 1q partial monosomy (disorder) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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