782673001: Distal monosomy 4q (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 4\4q partial monosomy syndrome\Distal monosomy 4q

\Anomaly of chromosome pair 4\Deletion of part of chromosome 4\4q partial monosomy syndrome\Distal monosomy 4q

\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 4\4q partial monosomy syndrome\Distal monosomy 4q

\Anomaly of chromosome pair 4\Deletion of part of chromosome 4\4q partial monosomy syndrome\Distal monosomy 4q

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

3755100012 Distal monosomy 4q en Synonym Active Only initial character case insensitive SNOMED CT core module

3755101011 Distal deletion 4q en Synonym Active Only initial character case insensitive SNOMED CT core module

3755102016 Distal monosomy 4q (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3755103014 Telomeric deletion 4q 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 4q	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Distal monosomy 4q	Finding site	Chromosome pair 4	true	Inferred relationship	Existential restriction modifier	2
Distal monosomy 4q	Is a	4q partial monosomy syndrome	true	Inferred relationship	Existential restriction modifier
Distal monosomy 4q	Finding site	Chromosome pair 4	true	Inferred relationship	Existential restriction modifier	1
Distal monosomy 4q	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Distal monosomy 4q	Associated morphology	Partial monosomy	true	Inferred relationship	Existential restriction modifier	1
Distal monosomy 4q	Associated morphology	Deletion of long arm	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets