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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
5403691018 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403692013 Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
5403691018 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403692013 Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterised 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. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3429101001000112 Kamptobrachydaktylie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
884701000172118 camptobrachydactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
884701000172118 camptobrachydactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3429101001000112 Kamptobrachydaktylie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


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 Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder) Is a Camptodactyly false Inferred relationship Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder) Is a Syndactyly of toes true Inferred relationship Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder) Is a Congenital abnormal shape of digit false Inferred relationship Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder) Is a Congenital anomaly of joint false Inferred relationship Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder) Is a Flexion deformity of finger false Inferred relationship Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder) Is a symbrachydactylie false Inferred relationship Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder) Is a Congenital deformity (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder) Is a Arthropathy of joint of hand (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Camptobrachydactyly (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Camptobrachydactyly (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 6
Camptobrachydactyly (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Camptobrachydactyly (disorder) Finding site Toe structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Camptobrachydactyly (disorder) Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier (core metadata concept) 5
Camptobrachydactyly (disorder) Finding site Entire digit false Inferred relationship Existential restriction modifier (core metadata concept) 5
Camptobrachydactyly (disorder) Associated morphology Congenital flexion deformity false Inferred relationship Existential restriction modifier (core metadata concept) 4
Camptobrachydactyly (disorder) Finding site Structure of interphalangeal joint of finger (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Camptobrachydactyly (disorder) Is a Symbrachydactyly true Inferred relationship Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptobrachydactyly (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Camptobrachydactyly (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Camptobrachydactyly (disorder) Finding site Toe structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptobrachydactyly (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptobrachydactyly (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptobrachydactyly (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptobrachydactyly (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptobrachydactyly (disorder) Associated morphology Abnormally short growth true Inferred relationship Existential restriction modifier (core metadata concept) 3
Camptobrachydactyly (disorder) Finding site Entire digit true Inferred relationship Existential restriction modifier (core metadata concept) 3
Camptobrachydactyly (disorder) Finding site Structure of interphalangeal joint of finger (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptobrachydactyly (disorder) Associated morphology Flexion deformity false Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptobrachydactyly (disorder) Is a Congenital anomaly of finger true Inferred relationship Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder) Associated morphology Flexion deformity false Inferred relationship Existential restriction modifier (core metadata concept) 5
Camptobrachydactyly (disorder) Associated morphology Flexion contracture (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptobrachydactyly (disorder) Interprets Range of joint movement true Inferred relationship Existential restriction modifier (core metadata concept) 4
Camptobrachydactyly (disorder) Has interpretation Decreased true Inferred relationship Existential restriction modifier (core metadata concept) 4
Camptobrachydactyly (disorder) Finding site Musculoskeletal structure of digit of hand false Inferred relationship Existential restriction modifier (core metadata concept) 5
Camptobrachydactyly (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Camptobrachydactyly (disorder) Is a Flexion contracture true Inferred relationship Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder) Finding site Structure of interphalangeal joint region of finger (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Camptobrachydactyly (disorder) Is a Inherited arthrogryposis true Inferred relationship Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder) Associated morphology Fixed flexion deformity (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Camptobrachydactyly (disorder) Is a Deformity of hand (finding) false Inferred relationship Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder) Finding site Musculoskeletal system structure of digit (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Camptobrachydactyly (disorder) Is a Hereditary camptodactyly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder) Is a Congenital deformity of hand (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Camptobrachydactyly (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Camptobrachydactyly (disorder) Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Camptobrachydactyly (disorder) Associated morphology Contracture true Inferred relationship Existential restriction modifier (core metadata concept) 6

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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