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771341006: 14q11.2 microduplication syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3705829018 14q11.2 microduplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3705830011 14q11.2 microduplication syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
3705831010 Trisomy 14q11.2 en Synonym Active Only initial character case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
14q11.2 microduplication syndrome Finding site Long arm of chromosome false Inferred relationship Existential restriction modifier 2
14q11.2 microduplication syndrome Is a 14q partial trisomy true Inferred relationship Existential restriction modifier
14q11.2 microduplication syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier 2
14q11.2 microduplication syndrome Finding site Chromosome pair 14 false Inferred relationship Existential restriction modifier 1
14q11.2 microduplication syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
14q11.2 microduplication syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier 1
14q11.2 microduplication syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
14q11.2 microduplication syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
14q11.2 microduplication syndrome Finding site Long arm of chromosome true Inferred relationship Existential restriction modifier 1
14q11.2 microduplication syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
14q11.2 microduplication syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
14q11.2 microduplication syndrome Finding site Chromosome pair 14 true Inferred relationship Existential restriction modifier 2
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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