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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


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 Some 2
10q22.3q23.3 microduplication syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Some 2
10q22.3q23.3 microduplication syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
10q22.3q23.3 microduplication syndrome (disorder) Is a 10q partial trisomy syndrome true Inferred relationship Some
10q22.3q23.3 microduplication syndrome (disorder) Associated morphology Partial trisomy true Inferred relationship Some 1
10q22.3q23.3 microduplication syndrome (disorder) Finding site Chromosome pair 10 (cell structure) true Inferred relationship Some 2
10q22.3q23.3 microduplication syndrome (disorder) Finding site Long arm of chromosome true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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