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733045005: Camptobrachydactyly (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3498629011 Camptobrachydactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498630018 Camptobrachydactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499946017 An extremely rare brachydactyly syndrome with characteristics of 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3956951000052112 kamptobrakydaktyli sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Camptobrachydactyly (disorder) Is a Autosomal dominant hereditary disorder false Inferred relationship Some
Camptobrachydactyly (disorder) Is a Camptodactyly false Inferred relationship Some
Camptobrachydactyly (disorder) Is a Syndactyly of toes true Inferred relationship Some
Camptobrachydactyly (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Camptobrachydactyly (disorder) Is a Congenital abnormal shape of digit false Inferred relationship Some
Camptobrachydactyly (disorder) Is a Congenital anomaly of joint false Inferred relationship Some
Camptobrachydactyly (disorder) Is a Flexion deformity of finger false Inferred relationship Some
Camptobrachydactyly (disorder) Is a synbrakydaktyli false Inferred relationship Some
Camptobrachydactyly (disorder) Is a Congenital deformity false Inferred relationship Some
Camptobrachydactyly (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Some
Camptobrachydactyly (disorder) Is a Arthropathy of joint of hand (disorder) false Inferred relationship Some
Camptobrachydactyly (disorder) Occurrence Congenital false Inferred relationship Some 4
Camptobrachydactyly (disorder) Occurrence Congenital true Inferred relationship Some 5
Camptobrachydactyly (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 6
Camptobrachydactyly (disorder) Occurrence Congenital false Inferred relationship Some 6
Camptobrachydactyly (disorder) Finding site Toe structure false Inferred relationship Some 6
Camptobrachydactyly (disorder) Associated morphology Abnormally short growth false Inferred relationship Some 5
Camptobrachydactyly (disorder) Finding site Entire digit false Inferred relationship Some 5
Camptobrachydactyly (disorder) Associated morphology medfödd flexionsdeformitet false Inferred relationship Some 4
Camptobrachydactyly (disorder) Finding site Structure of interphalangeal joint of finger (body structure) false Inferred relationship Some 4
Camptobrachydactyly (disorder) Is a Symbrachydactyly true Inferred relationship Some
Camptobrachydactyly (disorder) Occurrence Congenital true Inferred relationship Some 1
Camptobrachydactyly (disorder) Occurrence Congenital true Inferred relationship Some 3
Camptobrachydactyly (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Camptobrachydactyly (disorder) Finding site Toe structure true Inferred relationship Some 1
Camptobrachydactyly (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Camptobrachydactyly (disorder) Associated morphology Congenital abnormal fusion true Inferred relationship Some 1
Camptobrachydactyly (disorder) Occurrence Congenital true Inferred relationship Some 2
Camptobrachydactyly (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Camptobrachydactyly (disorder) Associated morphology Abnormally short growth true Inferred relationship Some 3
Camptobrachydactyly (disorder) Finding site Entire digit true Inferred relationship Some 3
Camptobrachydactyly (disorder) Finding site Structure of interphalangeal joint of finger (body structure) false Inferred relationship Some 2
Camptobrachydactyly (disorder) Associated morphology Flexion deformity false Inferred relationship Some 2
Camptobrachydactyly (disorder) Is a Congenital anomaly of finger true Inferred relationship Some
Camptobrachydactyly (disorder) Associated morphology Flexion deformity false Inferred relationship Some 5
Camptobrachydactyly (disorder) Associated morphology Flexion contracture true Inferred relationship Some 2
Camptobrachydactyly (disorder) Interprets Range of joint movement true Inferred relationship Some 4
Camptobrachydactyly (disorder) Has interpretation Decreased true Inferred relationship Some 4
Camptobrachydactyly (disorder) Finding site Musculoskeletal structure of digit of hand false Inferred relationship Some 5
Camptobrachydactyly (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Camptobrachydactyly (disorder) Is a Flexion contracture true Inferred relationship Some
Camptobrachydactyly (disorder) Finding site Structure of interphalangeal joint region of finger (body structure) true Inferred relationship Some 2
Camptobrachydactyly (disorder) Is a Inherited arthrogryposis true Inferred relationship Some
Camptobrachydactyly (disorder) Associated morphology Fixed flexion deformity (morphologic abnormality) true Inferred relationship Some 5
Camptobrachydactyly (disorder) Is a Deformity of hand false Inferred relationship Some
Camptobrachydactyly (disorder) Finding site Musculoskeletal system structure of digit (body structure) true Inferred relationship Some 5
Camptobrachydactyly (disorder) Is a Hereditary camptodactyly true Inferred relationship Some
Camptobrachydactyly (disorder) Is a Congenital deformity of hand (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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