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733045005: Camptobrachydactyly (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3498629011 Camptobrachydactyly (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3498630018 Camptobrachydactyly en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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