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310791006: Musculoskeletal system structure of digit (body structure)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
454304016 Musculoskeletal structure of digit en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3463865011 Musculoskeletal system structure of digit (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3463866012 Musculoskeletal system structure of digit en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1586 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Musculoskeletal system structure of digit (body structure) Is a Musculoskeletal structure of limb true Inferred relationship Some
Musculoskeletal system structure of digit (body structure) partie de Entire body as a whole false Inferred relationship Some
Musculoskeletal system structure of digit (body structure) Is a Digit structure true Inferred relationship Some
Musculoskeletal system structure of digit (body structure) partie de Entire limb false Additional relationship Some
Musculoskeletal system structure of digit (body structure) Laterality Side (qualifier value) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Musculoskeletal structure of digit of hand Is a True Musculoskeletal system structure of digit (body structure) Inferred relationship Some
Musculoskeletal structure of toe Is a True Musculoskeletal system structure of digit (body structure) Inferred relationship Some
Brachymesophalangia Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some 1
Brachydactyly of toes Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some
symbrachydactylie Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some
Bifid digit Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some 1
Brachyphalangia of toe Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some
Weill-Marchesani syndrome (disorder) Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some
Brachyphalangia Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some
Brachydactyly Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some
Brachydactyly syndrome type E Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some
Symphalangy Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some
Polysyndactyly syndrome Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some 1
Polysyndactyly Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some 1
Adactyly Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some
Syndactyly of multiple digits, unspecified Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some
Brachyphalangia of other toes Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some
Brachydactyly NOS Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some
Syndactyly NOS Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some
Open fracture dislocation digit Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some 1
Open fracture dislocation of distal interphalangeal joint Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some 3
Open fracture dislocation multiple digits Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some 3
Open fracture dislocation digit, unspecified Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some 2
Open fracture dislocation, interphalangeal joint, unspecified Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some 2
Open fracture dislocation of proximal interphalangeal joint Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some 3
Phalanx structure Is a True Musculoskeletal system structure of digit (body structure) Inferred relationship Some
Joint structure of digit (body structure) Is a True Musculoskeletal system structure of digit (body structure) Inferred relationship Some
Bifid digit Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some 1
Entire musculoskeletal system of digit (body structure) Is a True Musculoskeletal system structure of digit (body structure) Inferred relationship Some
Camptodactyly Finding site True Musculoskeletal system structure of digit (body structure) Inferred relationship Some 1
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. Finding site True Musculoskeletal system structure of digit (body structure) Inferred relationship Some 5
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. Finding site True Musculoskeletal system structure of digit (body structure) Inferred relationship Some 5
A rare syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive. Finding site True Musculoskeletal system structure of digit (body structure) Inferred relationship Some 2
A rare multiple congenital anomalies syndrome characterized by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline). Finding site True Musculoskeletal system structure of digit (body structure) Inferred relationship Some 2
A rare, genetic developmental defect during embryogenesis syndrome characterized by camptodactyly, joint contractures with amyotrophy, and ectodermal anomalies (oligodontia, enamel abnormalities, longitudinally broken nails, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching), as well as growth retardation, kyphoscoliosis, mild facial dysmorphism, and microcephaly. There have been no further descriptions in the literature since 1992. Finding site False Musculoskeletal system structure of digit (body structure) Inferred relationship Some 5
Hereditary camptodactyly Finding site True Musculoskeletal system structure of digit (body structure) Inferred relationship Some 1
A rare arthrogryposis syndrome characterized by arthrogryposis multiplex congenita with contractures involving multiple joints of the upper and lower limbs, camptodactyly of fingers and toes, skeletal abnormalities such as scoliosis and pectus excavatum, as well as variable speech and motor delay and hypotonia. Facial dysmorphism includes long eyelashes, periorbital fullness, ptosis, epicanthal folds, high arched/cleft palate, and micrognathia. Finding site True Musculoskeletal system structure of digit (body structure) Inferred relationship Some 3
Sporadic camptodactyly Finding site True Musculoskeletal system structure of digit (body structure) Inferred relationship Some 1
Sporadic camptodactyly Finding site True Musculoskeletal system structure of digit (body structure) Inferred relationship Some 2

Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

Anatomy structure and entire association reference set (foundation metadata concept)

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