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782669004: 10q22.3q23.3 microduplication syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3755079010 10q22.3q23.3 microduplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755080013 10q22.3q23.3 microduplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755081012 Trisomy 10q22.3q23.3 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755082017 A rare chromosomal anomaly with characteristics of variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3755079010 10q22.3q23.3 microduplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755080013 10q22.3q23.3 microduplication syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755081012 Trisomy 10q22.3q23.3 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3755082017 A rare chromosomal anomaly with characteristics of variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3396931001000114 Mikroduplikationssyndrom 10q22.3q23.3 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3396931001000114 Mikroduplikationssyndrom 10q22.3q23.3 de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
10q22.3q23.3 microduplication syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
10q22.3q23.3 microduplication syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 2
10q22.3q23.3 microduplication syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
10q22.3q23.3 microduplication syndrome (disorder) Is a 10q partial trisomy syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
10q22.3q23.3 microduplication syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier (core metadata concept) 1
10q22.3q23.3 microduplication syndrome (disorder) Finding site Chromosome pair 10 true Inferred relationship Existential restriction modifier (core metadata concept) 2
10q22.3q23.3 microduplication syndrome (disorder) Finding site Long arm of chromosome (cell structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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