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719657001: 2q23.1 microdeletion syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
3317267011 2q23.1 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3317268018 2q23.1 microdeletion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3317269014 Monosomy 2q23.1 en Synonym Active Entire term case insensitive SNOMED CT core module
3317270010 Pseudo-Angelman 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
2q23.1 microdeletion syndrome Is a Anomaly of chromosome pair 2 false Inferred relationship Existential restriction modifier
2q23.1 microdeletion syndrome Is a Deletion of part of autosome false Inferred relationship Existential restriction modifier
2q23.1 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
2q23.1 microdeletion syndrome Finding site Chromosome pair 2 false Inferred relationship Existential restriction modifier 2
2q23.1 microdeletion syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 3
2q23.1 microdeletion syndrome Finding site Chromosome pair 2 false Inferred relationship Existential restriction modifier 3
2q23.1 microdeletion syndrome Associated morphology Deletion of long arm false Inferred relationship Existential restriction modifier 2
2q23.1 microdeletion syndrome Associated morphology Partial monosomy false Inferred relationship Existential restriction modifier 3
2q23.1 microdeletion syndrome Is a Deletion of part of long arm of chromosome 2 true Inferred relationship Existential restriction modifier
2q23.1 microdeletion syndrome Finding site Chromosome pair 2 true Inferred relationship Existential restriction modifier 1
2q23.1 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
2q23.1 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
2q23.1 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
2q23.1 microdeletion syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
2q23.1 microdeletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 1
2q23.1 microdeletion syndrome Finding site Long arm of chromosome true Inferred relationship Existential restriction modifier 2
2q23.1 microdeletion syndrome Associated morphology Partial monosomy 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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