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19550003: 22q partial monosomy (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4555248013 22q partial monosomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555249017 22q partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
32915013 22q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
32915013 22q partial monosomy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
32915013 22q partial monosomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
747793012 22q partial monosomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
747793012 22q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
747793012 22q partial monosomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
747793012 22q partial monosomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555248013 22q partial monosomy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4555249017 22q partial monosomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4452951000241110 monosomie partielle 22q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4452951000241110 monosomie partielle 22q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
22q partial monosomy Is a Deletion of part of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
22q partial monosomy Is a Anomaly of chromosome pair 22 false Inferred relationship Existential restriction modifier (core metadata concept)
22q partial monosomy Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
22q partial monosomy Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier (core metadata concept)
22q partial monosomy Finding site Chromosome pair 22 false Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial monosomy Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
22q partial monosomy Associated morphology Monosomy false Inferred relationship Existential restriction modifier (core metadata concept)
22q partial monosomy Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept)
22q partial monosomy Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial monosomy Finding site Chromosome pair 22 false Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial monosomy Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
22q partial monosomy Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial monosomy Finding site Chromosome pair 22 false Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial monosomy Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial monosomy Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
22q partial monosomy Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
22q partial monosomy Finding site Chromosome pair 22 true Inferred relationship Existential restriction modifier (core metadata concept) 2
22q partial monosomy Is a Deletion of part of chromosome 22 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
22q partial monosomy Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial monosomy Associated morphology Partial monosomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal 22q11.2 microdeletion syndrome (disorder) Is a True 22q partial monosomy Inferred relationship Existential restriction modifier (core metadata concept)
22q11.2 deletion syndrome (disorder) Is a True 22q partial monosomy Inferred relationship Existential restriction modifier (core metadata concept)
22q13.3 deletion syndrome Is a True 22q partial monosomy Inferred relationship Existential restriction modifier (core metadata concept)
22q11 partial monosomy syndrome Is a False 22q partial monosomy Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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