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773325004: Distal 7q11.23 microduplication syndrome (disorder)

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

\Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7q partial trisomy\Distal 7q11.23 microduplication syndrome
\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 7\Partial trisomy of chromosome 7\7q partial trisomy\Distal 7q11.23 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\7q partial trisomy\Distal 7q11.23 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\7q partial trisomy\Distal 7q11.23 microduplication syndrome

\Congenital disease\Congenital malformation\Distal 7q11.23 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\7q partial trisomy\Distal 7q11.23 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\7q partial trisomy\Distal 7q11.23 microduplication syndrome

\Developmental disorder\Congenital malformation\Distal 7q11.23 microduplication syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3723178015 Distal trisomy 7q11.23 en Synonym Active Only initial character case insensitive SNOMED CT core module

3723180014 Distal 7q11.23 microduplication syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

3723181013 Distal 7q11.23 microduplication syndrome 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 7q11.23 microduplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	2
Distal 7q11.23 microduplication syndrome	Finding site	Long arm of chromosome	false	Inferred relationship	Existential restriction modifier	2
Distal 7q11.23 microduplication syndrome	Finding site	Chromosome pair 7	false	Inferred relationship	Existential restriction modifier	1
Distal 7q11.23 microduplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	1
Distal 7q11.23 microduplication syndrome	Is a	7q partial trisomy	true	Inferred relationship	Existential restriction modifier
Distal 7q11.23 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Distal 7q11.23 microduplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Distal 7q11.23 microduplication syndrome	Finding site	Chromosome pair 7	true	Inferred relationship	Existential restriction modifier	2
Distal 7q11.23 microduplication syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Distal 7q11.23 microduplication syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Existential restriction modifier	1
Distal 7q11.23 microduplication syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Distal 7q11.23 microduplication syndrome	Is a	Congenital malformation	true	Inferred relationship	Existential restriction modifier

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
3723178015	Distal trisomy 7q11.23	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3723180014	Distal 7q11.23 microduplication syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
3723181013	Distal 7q11.23 microduplication syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module