768927001: Trisomy 1q 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 1\Partial trisomy of long arm of chromosome 1\Trisomy 1q syndrome
\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1\Trisomy 1q syndrome
\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 1\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1\Trisomy 1q syndrome
\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 1\Partial trisomy of long arm of chromosome 1\Trisomy 1q syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Trisomy 1q 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

3687513019 Trisomy 1q syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3687514013 Trisomy 1q syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
3687515014 Duplication 1q 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 1q syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	2
Trisomy 1q syndrome	Is a	Partial trisomy of long arm of chromosome 1	true	Inferred relationship	Existential restriction modifier
Trisomy 1q syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	1
Trisomy 1q syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Existential restriction modifier	1
Trisomy 1q syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Trisomy 1q syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Trisomy 1q syndrome	Finding site	Chromosome pair 1	true	Inferred relationship	Existential restriction modifier	2
Trisomy 1q syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Trisomy 1q syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Trisomy 1q syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Medial duplication of long arm of chromosome 1	Is a	False	Trisomy 1q syndrome	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets