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764437006: Brachydactyly elbow wrist dysplasia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3649833017 Brachydactyly elbow wrist dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649834011 Brachydactyly elbow wrist dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3649835012 Liebenberg syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3649836013 Brachydactyly with joint dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5404286015 Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with active extension impossible) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5404287012 Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterised by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with active extension impossible) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported. 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 elbow wrist dysplasia (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Brachydactyly elbow wrist dysplasia (disorder) Is a Brachydactyly true Inferred relationship Some
Brachydactyly elbow wrist dysplasia (disorder) Is a Congenital anomaly of upper limb true Inferred relationship Some
Brachydactyly elbow wrist dysplasia (disorder) Is a Congenital anomaly of joint true Inferred relationship Some
Brachydactyly elbow wrist dysplasia (disorder) Is a Lesion of joint true Inferred relationship Some
Brachydactyly elbow wrist dysplasia (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Brachydactyly elbow wrist dysplasia (disorder) Is a Disorder of wrist joint (disorder) true Inferred relationship Some
Brachydactyly elbow wrist dysplasia (disorder) Is a Arthropathy of elbow (disorder) true Inferred relationship Some
Brachydactyly elbow wrist dysplasia (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 3
Brachydactyly elbow wrist dysplasia (disorder) Occurrence Congenital true Inferred relationship Some 3
Brachydactyly elbow wrist dysplasia (disorder) Finding site Elbow joint structure false Inferred relationship Some 3
Brachydactyly elbow wrist dysplasia (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 3
Brachydactyly elbow wrist dysplasia (disorder) Finding site Digit structure true Inferred relationship Some 3
Brachydactyly elbow wrist dysplasia (disorder) Occurrence Congenital true Inferred relationship Some 2
Brachydactyly elbow wrist dysplasia (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 1
Brachydactyly elbow wrist dysplasia (disorder) Associated morphology Congenital dysplasia false Inferred relationship Some 2
Brachydactyly elbow wrist dysplasia (disorder) Occurrence Congenital true Inferred relationship Some 1
Brachydactyly elbow wrist dysplasia (disorder) Finding site Elbow joint structure true Inferred relationship Some 2
Brachydactyly elbow wrist dysplasia (disorder) Finding site Wrist joint structure false Inferred relationship Some 1
Brachydactyly elbow wrist dysplasia (disorder) Finding site Digit structure false Inferred relationship Some 2
Brachydactyly elbow wrist dysplasia (disorder) Associated morphology Abnormally short growth false Inferred relationship Some 2
Brachydactyly elbow wrist dysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Brachydactyly elbow wrist dysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Brachydactyly elbow wrist dysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Brachydactyly elbow wrist dysplasia (disorder) Associated morphology Dysplasia true Inferred relationship Some 2
Brachydactyly elbow wrist dysplasia (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Brachydactyly elbow wrist dysplasia (disorder) Is a Skeletal dysplasia true Inferred relationship Some
Brachydactyly elbow wrist dysplasia (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Brachydactyly elbow wrist dysplasia (disorder) Finding site Joint structure of wrist region (body structure) true Inferred relationship Some 1
Brachydactyly elbow wrist dysplasia (disorder) Is a Congenital dysplasia of limb (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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