764512003: Distal trisomy 22q 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\Distal trisomy 22q syndrome
\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Trisomy 22\Partial trisomy of chromosome 22\22q partial trisomy\Distal trisomy 22q 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\Distal trisomy 22q 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\Distal trisomy 22q syndrome

\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Distal trisomy 22q 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\Distal trisomy 22q 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\Distal trisomy 22q syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Distal trisomy 22q 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

3650173012 Distal duplication 22q en Synonym Active Only initial character case insensitive SNOMED CT core module
3650174018 Distal trisomy 22q (disorder) en Fully specified name Inactive Only initial character case insensitive SNOMED CT core module
3650175017 Distal trisomy 22q en Synonym Active Only initial character case insensitive SNOMED CT core module
3650176016 Telomeric duplication 22q en Synonym Active Only initial character case insensitive SNOMED CT core module
4555273013 Distal trisomy 22q syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
4555274019 Distal trisomy 22q syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal trisomy 22q syndrome	Is a	22q partial trisomy	true	Inferred relationship	Existential restriction modifier
Distal trisomy 22q syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	1
Distal trisomy 22q syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Distal trisomy 22q syndrome	Finding site	Chromosome pair 22	false	Inferred relationship	Existential restriction modifier	1
Distal trisomy 22q syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Distal trisomy 22q syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Distal trisomy 22q syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	2
Distal trisomy 22q syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Existential restriction modifier	1
Distal trisomy 22q syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Distal trisomy 22q syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Distal trisomy 22q syndrome	Finding site	Chromosome pair 22	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

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This concept is not in any reference sets