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41878001: Symbrachydactyly (disorder)


Status: current, 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
69878012 Symbrachydactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
778715013 Symbrachydactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4526601000241114 symbrachydactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1058551000195115 Symbrachydaktylie der Hände und Füsse de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


7 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Symbrachydactyly Is a Acquired deformity of upper limb false Inferred relationship Some
Symbrachydactyly Is a Brachyphalangia false Inferred relationship Some
Symbrachydactyly Is a Simple syndactyly of fingers false Inferred relationship Some
Symbrachydactyly Is a Synbrachydactyly of hand false Inferred relationship Some
Symbrachydactyly Associated morphology Congenital webbing false Inferred relationship Some 1
Symbrachydactyly Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 1
Symbrachydactyly Finding site Connective tissue false Inferred relationship Some
Symbrachydactyly Occurrence Congenital false Inferred relationship Some
Symbrachydactyly Finding site Phalanx structure false Inferred relationship Some 1
Symbrachydactyly Finding site Musculoskeletal structure of finger false Inferred relationship Some 2
Symbrachydactyly Finding site Finger structure false Inferred relationship Some 1
Symbrachydactyly Associated morphology anomalie du développement false Inferred relationship Some
Symbrachydactyly Is a symbrachydactylie false Inferred relationship Some
Symbrachydactyly Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 6
Symbrachydactyly Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 2
Symbrachydactyly Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 1
Symbrachydactyly Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 2
Symbrachydactyly Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 1
Symbrachydactyly Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 2
Symbrachydactyly Is a Longitudinal deficiency of phalanges of hand false Inferred relationship Some
Symbrachydactyly Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 2
Symbrachydactyly Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 1
Symbrachydactyly Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 2
Symbrachydactyly Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 1
Symbrachydactyly Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 2
Symbrachydactyly Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 1
Symbrachydactyly Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 2
Symbrachydactyly Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 1
Symbrachydactyly Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 1
Symbrachydactyly Finding site Digit structure false Inferred relationship Some 1
Symbrachydactyly Finding site Digit structure false Inferred relationship Some 1
Symbrachydactyly Associated morphology Abnormally short growth (morphologic abnormality) true Inferred relationship Some 1
Symbrachydactyly Associated morphology Congenital webbing false Inferred relationship Some 1
Symbrachydactyly Occurrence Congenital true Inferred relationship Some 2
Symbrachydactyly Associated morphology anomalie du développement false Inferred relationship Some 2
Symbrachydactyly Is a Congenital anomaly of digit (disorder) false Inferred relationship Some
Symbrachydactyly Finding site Digit structure true Inferred relationship Some 2
Symbrachydactyly Is a Deformity of limb (finding) false Inferred relationship Some
Symbrachydactyly Occurrence Congenital false Inferred relationship Some 3
Symbrachydactyly Is a Brachydactyly of hand false Inferred relationship Some
Symbrachydactyly Is a symbrachydactylie false Inferred relationship Some
Symbrachydactyly Finding site Digit of hand structure false Inferred relationship Some 3
Symbrachydactyly Occurrence Congenital false Inferred relationship Some 4
Symbrachydactyly Finding site Digit of hand structure false Inferred relationship Some 4
Symbrachydactyly Associated morphology Congenital webbing false Inferred relationship Some 3
Symbrachydactyly Associated morphology Abnormally short growth (morphologic abnormality) false Inferred relationship Some 4
Symbrachydactyly Is a Congenital anomaly of finger (disorder) false Inferred relationship Some
Symbrachydactyly Occurrence Congenital true Inferred relationship Some 1
Symbrachydactyly Finding site Entire finger false Inferred relationship Some 1
Symbrachydactyly Is a Brachydactyly true Inferred relationship Some
Symbrachydactyly Is a Syndactyly (disorder) true Inferred relationship Some
Symbrachydactyly Associated morphology Congenital abnormal fusion false Inferred relationship Some 2
Symbrachydactyly Finding site Entire digit true Inferred relationship Some 1
Symbrachydactyly Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Symbrachydactyly Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Symbrachydactyly Associated morphology Fusion that has occurred in a structure that is not normally fused. true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Symbrachydactyly of toe (disorder) Is a True Symbrachydactyly Inferred relationship Some
Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common. Is a True Symbrachydactyly Inferred relationship Some
Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972. Is a True Symbrachydactyly Inferred relationship Some
Symbrachydactyly of digit of hand (disorder) Is a True Symbrachydactyly Inferred relationship Some

This concept is not in any reference sets

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