709418005: Autosomal translocation (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Chromosomal disorder (disorder)\Autosomal chromosomal disorder (disorder)\Autosomal translocation

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3039958015 Autosomal translocation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3040186018 Autosomal translocation (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5796121000241110 translocation autosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal translocation	Is a	Autosomal chromosomal disorder (disorder)	true	Inferred relationship	Some
Autosomal translocation	Associated morphology	Chromosomal translocation	true	Inferred relationship	Some	1
Autosomal translocation	Finding site	Chromosome structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Balanced autosomal translocation	Is a	True	Autosomal translocation	Inferred relationship	Some
Family history of autosomal translocation (situation)	Associated finding	True	Autosomal translocation	Inferred relationship	Some	1
A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.	Is a	True	Autosomal translocation	Inferred relationship	Some

This concept is not in any reference sets