782676009: Distal trisomy 18q (disorder)

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

\Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 18\18q partial trisomy syndrome\Distal trisomy 18q
\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 18\18q partial trisomy syndrome\Distal trisomy 18q
\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 18\Partial trisomy of chromosome 18\18q partial trisomy syndrome\Distal trisomy 18q
\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 18\18q partial trisomy syndrome\Distal trisomy 18q

\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\...

\Anomaly of chromosome pair\Anomaly of chromosome pair 18\Partial trisomy of chromosome 18\18q partial trisomy syndrome\Distal trisomy 18q

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 18\18q partial trisomy syndrome\Distal trisomy 18q

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

3755114012 Distal duplication 18q en Synonym Active Only initial character case insensitive SNOMED CT core module

3755115013 Telomeric duplication 18q en Synonym Active Only initial character case insensitive SNOMED CT core module

3755116014 Distal trisomy 18q en Synonym Active Only initial character case insensitive SNOMED CT core module

3755117017 Distal trisomy 18q (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
Distal trisomy 18q	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	2
Distal trisomy 18q	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Distal trisomy 18q	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	1
Distal trisomy 18q	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Distal trisomy 18q	Is a	18q partial trisomy syndrome	true	Inferred relationship	Existential restriction modifier
Distal trisomy 18q	Finding site	Long arm of chromosome	true	Inferred relationship	Existential restriction modifier	2
Distal trisomy 18q	Finding site	Chromosome pair 18	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets