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5982001: 2q 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
10946013 2q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
798705014 2q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
10946013 2q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
10946013 2q partial trisomy syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
10946013 2q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
798705014 2q partial trisomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
798705014 2q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
798705014 2q partial trisomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
798705014 2q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4408391000241110 trisomie partielle 2q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4408391000241110 trisomie partielle 2q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
2q partial trisomy syndrome Is a Anomaly of chromosome pair 2 false Inferred relationship Existential restriction modifier (core metadata concept)
2q partial trisomy syndrome Is a Trisomy and partial trisomy of autosome false Inferred relationship Existential restriction modifier (core metadata concept)
2q partial trisomy syndrome Finding site Chromosome pair 2 (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
2q partial trisomy syndrome Finding site Sex chromosome false Inferred relationship Existential restriction modifier (core metadata concept)
2q partial trisomy syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
2q partial trisomy syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier (core metadata concept)
2q partial trisomy syndrome Associated morphology Trisomy (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept)
2q partial trisomy syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
2q partial trisomy syndrome Finding site Chromosome pair 2 (cell structure) false Inferred relationship Existential restriction modifier (core metadata concept) 1
2q partial trisomy syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
2q partial trisomy syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
2q partial trisomy syndrome Finding site Chromosome pair 2 (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
2q partial trisomy syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
2q partial trisomy syndrome Is a Partial trisomy of chromosome 2 (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal trisomy 2q (disorder) Is a True 2q partial trisomy syndrome Inferred relationship Existential restriction modifier (core metadata concept)
2q23.1 microduplication syndrome Is a True 2q partial trisomy syndrome Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 with characteristics of congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers. Is a True 2q partial trisomy syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Medial duplication of long arm of chromosome 2 (disorder) Is a True 2q partial trisomy syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Proximal duplication of long arm of chromosome 2 Is a True 2q partial trisomy syndrome Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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