764435003: 17q12 microduplication 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 17\17q partial trisomy syndrome\17q12 microduplication syndrome
\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\17q12 microduplication syndrome
\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17\17q partial trisomy syndrome\17q12 microduplication syndrome
\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\17q12 microduplication syndrome

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

\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Partial trisomy of chromosome 17\17q partial trisomy syndrome\17q12 microduplication syndrome

\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 17\17q partial trisomy syndrome\17q12 microduplication 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

3649826017 Chromosome 17q12 duplication syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

3649827014 17q12 duplication syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

3649828016 17q12 microduplication syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

3649829012 17q12 microduplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3649830019 Trisomy 17q12 en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
17q12 microduplication syndrome	Is a	17q partial trisomy syndrome	true	Inferred relationship	Existential restriction modifier
17q12 microduplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	2
17q12 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
17q12 microduplication syndrome	Finding site	Chromosome pair 17	true	Inferred relationship	Existential restriction modifier	2
17q12 microduplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	1
17q12 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
17q12 microduplication syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Existential restriction modifier	1

Inbound Relationships

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Active

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Characteristic

Refinability

Group

This concept is not in any reference sets