764459008: Distal trisomy 16q (disorder)

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

\Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of long arm of chromosome 16\Distal trisomy 16q
\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of long arm of chromosome 16\Distal trisomy 16q
\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 16\Partial trisomy of chromosome 16\Duplication of part of long arm of chromosome 16\Distal trisomy 16q
\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 16\Duplication of part of long arm of chromosome 16\Distal trisomy 16q

\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Distal trisomy 16q

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

3650165015 Distal duplication 16q en Synonym Active Only initial character case insensitive SNOMED CT core module

3650166019 Telomeric duplication 16q en Synonym Active Only initial character case insensitive SNOMED CT core module

3650167011 Distal trisomy 16q (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3650168018 Distal trisomy 16q 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 trisomy 16q	Is a	16q partial trisomy syndrome	false	Inferred relationship	Existential restriction modifier
Distal trisomy 16q	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	1
Distal trisomy 16q	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Distal trisomy 16q	Finding site	Chromosome pair 16	false	Inferred relationship	Existential restriction modifier	1
Distal trisomy 16q	Is a	Duplication of part of long arm of chromosome 16	true	Inferred relationship	Existential restriction modifier
Distal trisomy 16q	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Distal trisomy 16q	Finding site	Long arm of chromosome	true	Inferred relationship	Existential restriction modifier	1
Distal trisomy 16q	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Distal trisomy 16q	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Distal trisomy 16q	Finding site	Chromosome pair 16	true	Inferred relationship	Existential restriction modifier	2
Distal trisomy 16q	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	2
Distal trisomy 16q	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets