782694003: Non-distal monosomy 12q (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 long arm of chromosome 12\Non-distal monosomy 12q

\Anomaly of chromosome pair 12\Deletion of part of chromosome 12\Deletion of part of long arm of chromosome 12\Non-distal monosomy 12q

\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Non-distal monosomy 12q

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3755245016 Non-distal deletion 12q en Synonym Active Only initial character case insensitive SNOMED CT core module

3755246015 Non-distal monosomy 12q en Synonym Active Only initial character case insensitive SNOMED CT core module

3755247012 Non-telomeric monosomy 12q en Synonym Active Only initial character case insensitive SNOMED CT core module

3755248019 Non-distal monosomy 12q (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Non-distal monosomy 12q	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	1
Non-distal monosomy 12q	Finding site	Chromosome pair 12	true	Inferred relationship	Existential restriction modifier	1
Non-distal monosomy 12q	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier	2
Non-distal monosomy 12q	Is a	Deletion of part of long arm of chromosome 12	true	Inferred relationship	Existential restriction modifier
Non-distal monosomy 12q	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Non-distal monosomy 12q	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Non-distal monosomy 12q	Finding site	Chromosome pair 12	false	Inferred relationship	Existential restriction modifier	2
Non-distal monosomy 12q	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Non-distal monosomy 12q	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Non-distal monosomy 12q	Finding site	Long arm of chromosome	true	Inferred relationship	Existential restriction modifier	2
Non-distal monosomy 12q	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	2
Non-distal monosomy 12q	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets