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719652007: 2p21 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
3317251017 2p21 microdeletion syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3317252012 2p21 microdeletion syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3317253019 Monosomy 2p21 en Synonym Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
2p21 microdeletion syndrome Is a Anomaly of chromosome pair 2 false Inferred relationship Existential restriction modifier
2p21 microdeletion syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
2p21 microdeletion syndrome Is a Deletion of part of autosome false Inferred relationship Existential restriction modifier
2p21 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
2p21 microdeletion syndrome Finding site Chromosome pair 2 false Inferred relationship Existential restriction modifier 2
2p21 microdeletion syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 3
2p21 microdeletion syndrome Finding site Chromosome pair 2 false Inferred relationship Existential restriction modifier 3
2p21 microdeletion syndrome Associated morphology Deletion of short arm false Inferred relationship Existential restriction modifier 2
2p21 microdeletion syndrome Associated morphology Partial monosomy false Inferred relationship Existential restriction modifier 3
2p21 microdeletion syndrome Is a Deletion of part of short arm of chromosome 2 true Inferred relationship Existential restriction modifier
2p21 microdeletion syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
2p21 microdeletion syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier
2p21 microdeletion syndrome Finding site Short arm of chromosome true Inferred relationship Existential restriction modifier 2
2p21 microdeletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 2
2p21 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
2p21 microdeletion syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
2p21 microdeletion syndrome Finding site Chromosome pair 2 true Inferred relationship Existential restriction modifier 1
2p21 microdeletion syndrome Associated morphology Partial monosomy true Inferred relationship Existential restriction modifier 1
2p21 microdeletion syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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