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764703002: 7p22.1 microduplication syndrome (disorder)

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

\Genetic disease\Hereditary disease\...

\Developmental hereditary disorder\7p22.1 microduplication syndrome

\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\7p22.1 microduplication syndrome

\Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7p partial trisomy\7p22.1 microduplication syndrome
\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7p partial trisomy\7p22.1 microduplication syndrome
\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Partial trisomy of chromosome 7\7p partial trisomy\7p22.1 microduplication syndrome
\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7p partial trisomy\7p22.1 microduplication syndrome

\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\7p22.1 microduplication syndrome
\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 7\Trisomy 7\Partial trisomy of chromosome 7\7p partial trisomy\7p22.1 microduplication syndrome
\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7p partial trisomy\7p22.1 microduplication syndrome

\Developmental disorder\Developmental hereditary disorder\7p22.1 microduplication syndrome
\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\7p22.1 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

3654881019 7p22.1 microduplication syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3654882014 Trisomy 7p22.1 en Synonym Active Entire term case insensitive SNOMED CT core module
3654883016 7p22.1 microduplication syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
7p22.1 microduplication syndrome	Is a	7p partial trisomy	true	Inferred relationship	Existential restriction modifier
7p22.1 microduplication syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
7p22.1 microduplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	1
7p22.1 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
7p22.1 microduplication syndrome	Finding site	Chromosome pair 7	false	Inferred relationship	Existential restriction modifier	1
7p22.1 microduplication syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
7p22.1 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
7p22.1 microduplication syndrome	Finding site	Chromosome pair 7	true	Inferred relationship	Existential restriction modifier	2
7p22.1 microduplication syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
7p22.1 microduplication syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
7p22.1 microduplication syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
7p22.1 microduplication syndrome	Finding site	Short arm of chromosome	true	Inferred relationship	Existential restriction modifier	1
7p22.1 microduplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3654881019	7p22.1 microduplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3654882014	Trisomy 7p22.1	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3654883016	7p22.1 microduplication syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module