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699311001: 22q11.2 duplication syndrome (disorder)

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

\Chromosomal disorder\Autosomal chromosomal disorder\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy\22q11.2 duplication syndrome
\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy\22q11.2 duplication syndrome
\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy\22q11.2 duplication syndrome
\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy\22q11.2 duplication syndrome

\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\22q11.2 duplication syndrome
\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 22\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy\22q11.2 duplication syndrome
\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy\22q11.2 duplication syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\22q11.2 duplication syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2014. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

2983751019 Chromosome 22q11.2 microduplication syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

2983753016 22q11.2 duplication en Synonym Active Only initial character case insensitive SNOMED CT core module

2983761014 Chromosome 22q11.2 duplication syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

4555271010 22q11.2 duplication syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4555272015 22q11.2 duplication syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
22q11.2 duplication syndrome	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Existential restriction modifier
22q11.2 duplication syndrome	Is a	Duplication of chromosome	false	Inferred relationship	Existential restriction modifier
22q11.2 duplication syndrome	Is a	Anomaly of chromosome pair 22	false	Inferred relationship	Existential restriction modifier
22q11.2 duplication syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
22q11.2 duplication syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier
22q11.2 duplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
22q11.2 duplication syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Existential restriction modifier	1
22q11.2 duplication syndrome	Finding site	Chromosome pair 22	false	Inferred relationship	Existential restriction modifier	1
22q11.2 duplication syndrome	Is a	22q partial trisomy	true	Inferred relationship	Existential restriction modifier
22q11.2 duplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	1
22q11.2 duplication syndrome	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier
22q11.2 duplication syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
22q11.2 duplication syndrome	Finding site	Short arm of chromosome	false	Inferred relationship	Existential restriction modifier	1
22q11.2 duplication syndrome	Finding site	Chromosome pair 22	true	Inferred relationship	Existential restriction modifier	2
22q11.2 duplication syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	2
22q11.2 duplication syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
22q11.2 duplication syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
22q11.2 duplication syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
22q11.2 duplication syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Existential restriction modifier	1

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
2983751019	Chromosome 22q11.2 microduplication syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
2983753016	22q11.2 duplication	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
2983761014	Chromosome 22q11.2 duplication syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4555271010	22q11.2 duplication syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4555272015	22q11.2 duplication syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module