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20348002: 14q partial distal trisomy 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 14\14q partial trisomy\14q partial distal trisomy syndrome
\Chromosomal disorder\Duplication of chromosome\Autosomal duplication\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14\14q partial trisomy\14q partial distal trisomy syndrome
\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Partial trisomy of chromosome 14\14q partial trisomy\14q partial distal trisomy syndrome
\Chromosomal disorder\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14\14q partial trisomy\14q partial distal trisomy syndrome

\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\14q partial distal trisomy syndrome
\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Partial trisomy of chromosome 14\14q partial trisomy\14q partial distal trisomy syndrome
\Congenital disease\Congenital disorder due to abnormality of chromosome number OR structure\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14\14q partial trisomy\14q partial distal trisomy syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\14q partial distal trisomy syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

34217010 14q partial distal trisomy syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

749453017 14q partial distal trisomy syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
14q partial distal trisomy syndrome	Is a	14q partial trisomy	true	Inferred relationship	Existential restriction modifier
14q partial distal trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier
14q partial distal trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
14q partial distal trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Existential restriction modifier
14q partial distal trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier
14q partial distal trisomy syndrome	Finding site	Chromosome pair 14	false	Inferred relationship	Existential restriction modifier	1
14q partial distal trisomy syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
14q partial distal trisomy syndrome	Finding site	Chromosome pair 14	false	Inferred relationship	Existential restriction modifier	1
14q partial distal trisomy syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier
14q partial distal trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
14q partial distal trisomy syndrome	Finding site	Chromosome pair 14	false	Inferred relationship	Existential restriction modifier	1
14q partial distal trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	1
14q partial distal trisomy syndrome	Is a	Distal duplication of chromosome 14	false	Inferred relationship	Existential restriction modifier
14q partial distal trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
14q partial distal trisomy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
14q partial distal trisomy syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Existential restriction modifier	1
14q partial distal trisomy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
14q partial distal trisomy syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
14q partial distal trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Existential restriction modifier	2
14q partial distal trisomy syndrome	Finding site	Chromosome pair 14	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
34217010	14q partial distal trisomy syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
749453017	14q partial distal trisomy syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module