770902008: Distal monosomy 12p (disorder)

SNOMED CT Concept\Clinical finding\Disease\...

\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\...

\Monosomy and deletion from autosome\Deletion of part of autosome\Deletion of part of chromosome 12\Deletion of part of short arm of chromosome 12\Distal monosomy 12p

\Anomaly of chromosome pair 12\Deletion of part of chromosome 12\Deletion of part of short arm of chromosome 12\Distal monosomy 12p

\Developmental disorder\Congenital malformation\Distal monosomy 12p

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

3703346014 Distal monosomy 12p en Synonym Active Only initial character case insensitive SNOMED CT core module

3703347017 Distal deletion 12p en Synonym Active Only initial character case insensitive SNOMED CT core module

3703348010 Distal monosomy 12p (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3703349019 12p13.33 microdeletion syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal monosomy 12p	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	2
Distal monosomy 12p	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Distal monosomy 12p	Finding site	Chromosome pair 12	true	Inferred relationship	Existential restriction modifier	1
Distal monosomy 12p	Is a	Deletion of part of chromosome 12	false	Inferred relationship	Existential restriction modifier
Distal monosomy 12p	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Distal monosomy 12p	Finding site	Short arm of chromosome	true	Inferred relationship	Existential restriction modifier	2
Distal monosomy 12p	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	1
Distal monosomy 12p	Is a	Deletion of part of short arm of chromosome 12	true	Inferred relationship	Existential restriction modifier
Distal monosomy 12p	Is a	Congenital malformation	true	Inferred relationship	Existential restriction modifier
Distal monosomy 12p	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Distal monosomy 12p	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

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Group

This concept is not in any reference sets