763530000: Distal monosomy 9p syndrome (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 9\Distal monosomy 9p syndrome

\Anomaly of chromosome pair 9\Deletion of part of chromosome 9\Distal monosomy 9p syndrome

\Congenital disease\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 9\Distal monosomy 9p syndrome

\Anomaly of chromosome pair 9\Deletion of part of chromosome 9\Distal monosomy 9p syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3642753010 Distal deletion 9p en Synonym Active Only initial character case insensitive SNOMED CT core module

3642754016 Distal monosomy 9p syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3642755015 Distal monosomy 9p en Synonym Active Only initial character case insensitive SNOMED CT core module

3642756019 Distal monosomy 9p 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 9p syndrome	Is a	9p partial monosomy syndrome	false	Inferred relationship	Existential restriction modifier
Distal monosomy 9p syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Distal monosomy 9p syndrome	Finding site	Chromosome pair 9	true	Inferred relationship	Existential restriction modifier	2
Distal monosomy 9p syndrome	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	2
Distal monosomy 9p syndrome	Associated morphology	Deletion of short arm	true	Inferred relationship	Existential restriction modifier	1
Distal monosomy 9p syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Distal monosomy 9p syndrome	Finding site	Chromosome pair 9	true	Inferred relationship	Existential restriction modifier	1
Distal monosomy 9p syndrome	Is a	Deletion of part of chromosome 9	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
9p24.3 deletion syndrome	Is a	True	Distal monosomy 9p syndrome	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets