732259001: Distal monosomy 17q (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 17\Deletion of part of long arm of chromosome 17\Distal monosomy 17q

\Anomaly of chromosome pair 17\Deletion of part of chromosome 17\Deletion of part of long arm of chromosome 17\Distal monosomy 17q

\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 17\Deletion of part of long arm of chromosome 17\Distal monosomy 17q

\Anomaly of chromosome pair 17\Deletion of part of chromosome 17\Deletion of part of long arm of chromosome 17\Distal monosomy 17q

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

Descriptions:

Id Description Lang Type Status Case? Module

3465056017 Distal monosomy 17q (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3465057014 Distal monosomy 17q en Synonym Active Only initial character case insensitive SNOMED CT core module

3465058016 Distal 17q deletion en Synonym Active Only initial character case insensitive SNOMED CT core module

3465059012 Telomeric deletion 17q 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 17q	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Distal monosomy 17q	Finding site	Chromosome pair 17	true	Inferred relationship	Existential restriction modifier	2
Distal monosomy 17q	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Distal monosomy 17q	Finding site	Chromosome pair 17	false	Inferred relationship	Existential restriction modifier	3
Distal monosomy 17q	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	2
Distal monosomy 17q	Associated morphology	Deletion of long arm	false	Inferred relationship	Existential restriction modifier	3
Distal monosomy 17q	Is a	Deletion of part of long arm of chromosome 17	true	Inferred relationship	Existential restriction modifier
Distal monosomy 17q	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Distal monosomy 17q	Finding site	Long arm of chromosome	true	Inferred relationship	Existential restriction modifier	1
Distal monosomy 17q	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets