FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.13 | FHIR Version n/a User: [n/a]

83585001: 14q partial proximal 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 proximal 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 proximal trisomy syndrome
\Chromosomal disorder\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Partial trisomy of chromosome 14\14q partial trisomy\14q partial proximal trisomy syndrome
\Chromosomal disorder\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14\14q partial trisomy\14q partial proximal trisomy syndrome

\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\14q partial proximal trisomy syndrome
\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 14\Partial trisomy of chromosome 14\14q partial trisomy\14q partial proximal trisomy syndrome
\Congenital disease\Congenital chromosomal disease\Trisomy and partial trisomy of autosome\Partial trisomy of chromosome 14\14q partial trisomy\14q partial proximal trisomy syndrome

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

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

138626011 14q partial proximal trisomy syndrome en Synonym Active Case insensitive SNOMED CT core

825249015 14q partial proximal trisomy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
14q partial proximal trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
14q partial proximal trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	2
14q partial proximal trisomy syndrome	Finding site	Long arm of chromosome	true	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
14q partial proximal trisomy syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
14q partial proximal trisomy syndrome	Finding site	Chromosome pair 14	true	Inferred relationship	Some	2
14q partial proximal trisomy syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Is a	14q partial trisomy	true	Inferred relationship	Some
14q partial proximal trisomy syndrome	Finding site	Chromosome pair 14	false	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some
14q partial proximal trisomy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Finding site	Chromosome pair 14	false	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Associated morphology	Partial trisomy	true	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
14q partial proximal trisomy syndrome	Occurrence	Congenital	false	Inferred relationship	Some
14q partial proximal trisomy syndrome	Finding site	Chromosome pair 14	false	Inferred relationship	Some	1
14q partial proximal trisomy syndrome	Associated morphology	Trisomy	false	Inferred relationship	Some
14q partial proximal trisomy syndrome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
138626011	14q partial proximal trisomy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
825249015	14q partial proximal trisomy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core