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764524005: Distal 22q11.2 microduplication syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3650203017 Distal trisomy 22q11.2 en Synonym Active Only initial character case insensitive SNOMED CT core module
3650204011 Distal 22q11.2 microduplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3650205012 Distal 22q11.2 microduplication syndrome 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
Distal 22q11.2 microduplication syndrome Is a 22q partial trisomy true Inferred relationship Existential restriction modifier
Distal 22q11.2 microduplication syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier 1
Distal 22q11.2 microduplication syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Distal 22q11.2 microduplication syndrome Finding site Chromosome pair 22 false Inferred relationship Existential restriction modifier 1
Distal 22q11.2 microduplication syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Distal 22q11.2 microduplication syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Distal 22q11.2 microduplication syndrome Associated morphology Partial trisomy true Inferred relationship Existential restriction modifier 2
Distal 22q11.2 microduplication syndrome Finding site Long arm of chromosome true Inferred relationship Existential restriction modifier 1
Distal 22q11.2 microduplication syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Distal 22q11.2 microduplication syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
Distal 22q11.2 microduplication syndrome Finding site Chromosome pair 22 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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