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720572004: Brachydactyly with syndactyly Zhao type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3321285013 Brachydactyly with syndactyly Zhao type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321286014 Brachydactyly with syndactyly Zhao type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3321287017 A recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the second and fifth fingers and absence of middle phalanges of the second to fifth toes) and a syndactyly of the second and third toes. Metacarpals and metatarsals anomalies are common. This syndrome has been described in two families. It is caused by HOXD13 mutations in 2q31-q32. Inherited as an autosomal dominant trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Brachydactyly with syndactyly Zhao type (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Brachydactyly with syndactyly Zhao type (disorder) Is a Synbrachydactyly false Inferred relationship Some
Brachydactyly with syndactyly Zhao type (disorder) Associated morphology Abnormally short growth false Inferred relationship Some 2
Brachydactyly with syndactyly Zhao type (disorder) Occurrence Congenital true Inferred relationship Some 2
Brachydactyly with syndactyly Zhao type (disorder) Finding site Entire digit false Inferred relationship Some 2
Brachydactyly with syndactyly Zhao type (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 3
Brachydactyly with syndactyly Zhao type (disorder) Occurrence Congenital false Inferred relationship Some 3
Brachydactyly with syndactyly Zhao type (disorder) Finding site Digit structure false Inferred relationship Some 3
Brachydactyly with syndactyly Zhao type (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 2
Brachydactyly with syndactyly Zhao type (disorder) Finding site Digit structure true Inferred relationship Some 2
Brachydactyly with syndactyly Zhao type (disorder) Is a Symbrachydactyly true Inferred relationship Some
Brachydactyly with syndactyly Zhao type (disorder) Finding site Entire digit true Inferred relationship Some 1
Brachydactyly with syndactyly Zhao type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Brachydactyly with syndactyly Zhao type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Brachydactyly with syndactyly Zhao type (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 1
Brachydactyly with syndactyly Zhao type (disorder) Occurrence Congenital true Inferred relationship Some 1
Brachydactyly with syndactyly Zhao type (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Brachydactyly with syndactyly Zhao type (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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