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15897004: Chromosomal translocation (morphologic abnormality)

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

Descriptions:

Id Description Lang Type Status Case? Module
26931012 Chromosomal translocation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
742813010 Chromosomal translocation (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosomal translocation Is a Chromosomal morphology true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Centric fusion translocation Is a True Chromosomal translocation Inferred relationship Some
Robertsonian translocation Is a True Chromosomal translocation Inferred relationship Some
Reciprocal translocation Is a True Chromosomal translocation Inferred relationship Some
Translocation Down syndrome (disorder) Associated morphology False Chromosomal translocation Inferred relationship Some 2
Unbalanced translocation of chromosome (disorder) Associated morphology True Chromosomal translocation Inferred relationship Some 1
Balanced autosomal translocation Associated morphology False Chromosomal translocation Inferred relationship Some
Unbalanced translocation and insertion Associated morphology True Chromosomal translocation Inferred relationship Some 1
Balanced autosomal translocation Associated morphology True Chromosomal translocation Inferred relationship Some 1
Autosomal translocation Associated morphology True Chromosomal translocation Inferred relationship Some 1
Balanced autosomal translocation in normal individual (disorder) Associated morphology True Chromosomal translocation Inferred relationship Some 1
Translocation Down syndrome (disorder) Associated morphology True Chromosomal 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. Associated morphology True Chromosomal translocation Inferred relationship Some 1

This concept is not in any reference sets

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