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733045005: camptobrachydactylie (trouble)


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
762831000241119 camptobrachydactylie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
884701000172118 camptobrachydactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Camptobrachydactyly (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Camptobrachydactyly (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Camptobrachydactyly (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Camptobrachydactyly (disorder) localisation d'une constatation (attribut) orteil (structure corporelle) true Inferred relationship Some 1
Camptobrachydactyly (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Camptobrachydactyly (disorder) morphologie associée (attribut) Congenital abnormal fusion true Inferred relationship Some 1
Camptobrachydactyly (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Camptobrachydactyly (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Camptobrachydactyly (disorder) morphologie associée (attribut) Abnormally short growth true Inferred relationship Some 3
Camptobrachydactyly (disorder) localisation d'une constatation (attribut) Entire digit true Inferred relationship Some 3
Camptobrachydactyly (disorder) localisation d'une constatation (attribut) Structure of interphalangeal joint of finger (body structure) false Inferred relationship Some 2
Camptobrachydactyly (disorder) morphologie associée (attribut) Flexion deformity false Inferred relationship Some 2
Camptobrachydactyly (disorder) est un(e) (attribut) Congenital anomaly of finger true Inferred relationship Some
Camptobrachydactyly (disorder) morphologie associée (attribut) Flexion deformity false Inferred relationship Some 5
Camptobrachydactyly (disorder) morphologie associée (attribut) Flexion contracture true Inferred relationship Some 2
Camptobrachydactyly (disorder) interprète (attribut) Range of joint movement true Inferred relationship Some 4
Camptobrachydactyly (disorder) a pour interprétation (attribut) Decreased true Inferred relationship Some 4
Camptobrachydactyly (disorder) localisation d'une constatation (attribut) 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) est un(e) (attribut) Flexion contracture true Inferred relationship Some
Camptobrachydactyly (disorder) localisation d'une constatation (attribut) Structure of interphalangeal joint region of finger (body structure) true Inferred relationship Some 2
Camptobrachydactyly (disorder) est un(e) (attribut) Inherited arthrogryposis true Inferred relationship Some
Camptobrachydactyly (disorder) morphologie associée (attribut) Fixed flexion deformity (morphologic abnormality) true Inferred relationship Some 5
Camptobrachydactyly (disorder) est un(e) (attribut) déformation d'une main false Inferred relationship Some
Camptobrachydactyly (disorder) localisation d'une constatation (attribut) Musculoskeletal system structure of digit (body structure) true Inferred relationship Some 5
Camptobrachydactyly (disorder) est un(e) (attribut) Hereditary camptodactyly true Inferred relationship Some
Camptobrachydactyly (disorder) est un(e) (attribut) Congenital deformity of hand (disorder) true Inferred relationship Some
Camptobrachydactyly (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder false Inferred relationship Some
Camptobrachydactyly (disorder) est un(e) (attribut) Camptodactyly false Inferred relationship Some
Camptobrachydactyly (disorder) est un(e) (attribut) Syndactyly of toes true Inferred relationship Some
Camptobrachydactyly (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Camptobrachydactyly (disorder) est un(e) (attribut) Congenital abnormal shape of digit false Inferred relationship Some
Camptobrachydactyly (disorder) est un(e) (attribut) Congenital anomaly of joint false Inferred relationship Some
Camptobrachydactyly (disorder) est un(e) (attribut) déformation en flexion d'un doigt (trouble) false Inferred relationship Some
Camptobrachydactyly (disorder) est un(e) (attribut) symbrachydactylie false Inferred relationship Some
Camptobrachydactyly (disorder) est un(e) (attribut) anomalie morphologique congénitale false Inferred relationship Some
Camptobrachydactyly (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system false Inferred relationship Some
Camptobrachydactyly (disorder) est un(e) (attribut) Arthropathy of joint of hand (disorder) false Inferred relationship Some
Camptobrachydactyly (disorder) survenue (attribut) congénital false Inferred relationship Some 4
Camptobrachydactyly (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Camptobrachydactyly (disorder) morphologie associée (attribut) Congenital abnormal fusion false Inferred relationship Some 6
Camptobrachydactyly (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Camptobrachydactyly (disorder) localisation d'une constatation (attribut) orteil (structure corporelle) false Inferred relationship Some 6
Camptobrachydactyly (disorder) morphologie associée (attribut) Abnormally short growth false Inferred relationship Some 5
Camptobrachydactyly (disorder) localisation d'une constatation (attribut) Entire digit false Inferred relationship Some 5
Camptobrachydactyly (disorder) morphologie associée (attribut) Congenital flexion deformity false Inferred relationship Some 4
Camptobrachydactyly (disorder) localisation d'une constatation (attribut) Structure of interphalangeal joint of finger (body structure) false Inferred relationship Some 4
Camptobrachydactyly (disorder) est un(e) (attribut) Symbrachydactyly true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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