768929003: Trisomy 8p syndrome (disorder)

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

\Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8\Trisomy 8p syndrome
\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8\Trisomy 8p syndrome
\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 8\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8\Trisomy 8p syndrome
\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8\Trisomy 8p syndrome

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

\Anomaly of chromosome pair\Anomaly of chromosome pair 8\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8\Trisomy 8p syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 8\Partial trisomy of short arm of chromosome 8\Trisomy 8p 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

3687521013 Trisomy 8p syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3687522018 Trisomy 8p syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

3687523011 Duplication 8p en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Trisomy 8p syndrome	Is a	Partial trisomy of short arm of chromosome 8	true	Inferred relationship	Existential restriction modifier
Trisomy 8p syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Trisomy 8p syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Trisomy 8p syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	1
Trisomy 8p syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	2
Trisomy 8p syndrome	Finding site	Short arm of chromosome	true	Inferred relationship	Existential restriction modifier	1
Trisomy 8p syndrome	Finding site	Chromosome pair 8	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets