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734029004: Distal 22q11.2 microdeletion syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3482004014 Distal 22q11.2 microdeletion syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3482005010 Distal 22q11.2 microdeletion syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
3482006011 Distal monosomy 22q11.2 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
Distal 22q11.2 microdeletion syndrome Is a 22q partial monosomy true Inferred relationship Existential restriction modifier
Distal 22q11.2 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Distal 22q11.2 microdeletion syndrome Finding site Chromosome pair 22 true Inferred relationship Existential restriction modifier 2
Distal 22q11.2 microdeletion syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 3
Distal 22q11.2 microdeletion syndrome Finding site Chromosome pair 22 false Inferred relationship Existential restriction modifier 3
Distal 22q11.2 microdeletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 2
Distal 22q11.2 microdeletion syndrome Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier 3
Distal 22q11.2 microdeletion syndrome Finding site Long arm of chromosome true Inferred relationship Existential restriction modifier 1
Distal 22q11.2 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Distal 22q11.2 microdeletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 1
Distal 22q11.2 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Distal 22q11.2 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Distal 22q11.2 microdeletion syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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