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66985009: 18q partial trisomy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
111264019 18q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
111265018 Grouchy-Lamy-Salmon-Landry syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
806658019 18q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
111264019 18q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
111264019 18q partial trisomy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
111264019 18q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
111265018 Grouchy-Lamy-Salmon-Landry syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
806658019 18q partial trisomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
806658019 18q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
806658019 18q partial trisomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
806658019 18q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4609211000241117 trisomie partielle 18q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4609211000241117 trisomie partielle 18q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
18q partial trisomy syndrome Is a Trisomy and partial trisomy of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
18q partial trisomy syndrome Is a Anomaly of chromosome pair 18 false Inferred relationship Existential restriction modifier (core metadata concept)
18q partial trisomy syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept)
18q partial trisomy syndrome Finding site Chromosome pair 18 false Inferred relationship Existential restriction modifier (core metadata concept) 1
18q partial trisomy syndrome Associated morphology Trisomy (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept)
18q partial trisomy syndrome Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
18q partial trisomy syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
18q partial trisomy syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
18q partial trisomy syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
18q partial trisomy syndrome Finding site Chromosome pair 18 false Inferred relationship Existential restriction modifier (core metadata concept) 1
18q partial trisomy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
18q partial trisomy syndrome Finding site Chromosome pair 18 true Inferred relationship Existential restriction modifier (core metadata concept) 1
18q partial trisomy syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
18q partial trisomy syndrome Is a Partial trisomy of chromosome 18 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal trisomy 18q Is a True 18q partial trisomy syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Proximal duplication of long arm of chromosome 18 (disorder) Is a True 18q partial trisomy syndrome Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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