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720572004: Brachydactyly with syndactyly Zhao type (disorder)


Status: current, Primitive. 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 Initial character case insensitive SNOMED CT core
3321286014 Brachydactyly with syndactyly Zhao type en Synonym Active Initial character case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

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