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29271008: Camptodactyly (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
48985010 Camptodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
48986011 Camptodactylia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
48987019 Campylodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
48988012 Streblodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
484254018 Congenital campylodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
484255017 Congenital camptodactylia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
484256016 Congenital streblodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
484257013 Congenital camptodactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
760147010 Camptodactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
69041000077111 camptodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3448591001000115 Kamptodaktylie der Finger de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

21 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Camptodactyly Is a Congenital anomaly of finger (disorder) false Inferred relationship Some
Camptodactyly Is a Congenital anomaly of hand (disorder) false Inferred relationship Some
Camptodactyly Is a Acquired deformity of upper limb false Inferred relationship Some
Camptodactyly Finding site Connective tissue false Inferred relationship Some
Camptodactyly Occurrence Congenital false Inferred relationship Some
Camptodactyly Finding site Musculoskeletal structure of digit of hand false Inferred relationship Some 1
Camptodactyly Associated morphology anomalie du développement false Inferred relationship Some
Camptodactyly Finding site Finger structure false Inferred relationship Some 2
Camptodactyly Associated morphology Flexion deformity false Inferred relationship Some 1
Camptodactyly Is a Congenital anomaly of musculoskeletal system false Inferred relationship Some
Camptodactyly Associated morphology anomalie congénitale false Inferred relationship Some 2
Camptodactyly Is a Disorder of musculoskeletal system (disorder) false Inferred relationship Some
Camptodactyly Is a Finding of musculoskeletal structure of digit of hand false Inferred relationship Some
Camptodactyly Is a Deformity (finding) false Inferred relationship Some
Camptodactyly Is a Flexion deformity false Inferred relationship Some
Camptodactyly Finding site Finger structure false Inferred relationship Some 2
Camptodactyly Associated morphology anomalie congénitale false Inferred relationship Some 2
Camptodactyly Finding site Musculoskeletal structure of digit of hand false Inferred relationship Some 1
Camptodactyly Associated morphology Flexion deformity false Inferred relationship Some 1
Camptodactyly Is a Deformity of upper limb false Inferred relationship Some
Camptodactyly Occurrence Congenital false Inferred relationship Some 3
Camptodactyly Associated morphology anomalie du développement false Inferred relationship Some 3
Camptodactyly Finding site Finger structure false Inferred relationship Some 3
Camptodactyly Occurrence Congenital false Inferred relationship Some 2
Camptodactyly Finding site Finger structure false Inferred relationship Some 2
Camptodactyly Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Camptodactyly Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Camptodactyly Occurrence Congenital true Inferred relationship Some 1
Camptodactyly Associated morphology Morphologically abnormal structure false Inferred relationship Some 2
Camptodactyly Is a Congenital deformity false Inferred relationship Some
Camptodactyly Is a Congenital abnormal shape of digit true Inferred relationship Some
Camptodactyly Is a Flexion deformity of hand false Inferred relationship Some
Camptodactyly Associated morphology Fixed flexion deformity (morphologic abnormality) true Inferred relationship Some 1
Camptodactyly Is a Deformity of limb (finding) true Inferred relationship Some
Camptodactyly Finding site Musculoskeletal system structure of digit (body structure) true Inferred relationship Some 1
Camptodactyly Is a Congenital deformity of musculoskeletal system (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Camptodactyly-little finger (disorder) Is a False Camptodactyly Inferred relationship Some
Camptodactyly-other or multiple Is a False Camptodactyly Inferred relationship Some
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. Is a True Camptodactyly Inferred relationship Some
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). Is a True Camptodactyly Inferred relationship Some
Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics. Is a True Camptodactyly Inferred relationship Some
An extremely rare chondrodysplastic malformation syndrome characterised by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972. Is a True Camptodactyly Inferred relationship Some
Camptodactyly-tall stature-scoliosis-hearing loss syndrome is characterized by camptodactyly, tall stature, scoliosis, and hearing loss (CATSHL). It has been described in around 30 individuals from seven generations of the same family. The syndrome is caused by a missense mutation in the FGFR3 gene, leading to a partial loss of function of the encoded protein, which is a negative regulator of bone growth. Is a True Camptodactyly Inferred relationship Some
Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies. Is a True Camptodactyly Inferred relationship Some
Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985. Is a False Camptodactyly Inferred relationship Some
Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. Is a True Camptodactyly Inferred relationship Some
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. Is a False Camptodactyly Inferred relationship Some
A congenital malformation syndrome with the association of a permanent camptodactyly of the fingers and the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966. Is a False Camptodactyly Inferred relationship Some
A rare, genetic, congenital limb malformation syndrome characterised by a unique combination of bilateral, symmetrical camptodactyly and clinodactyly of 5th fingers, mesoaxial camptodactyly of toes, and ulnar deviation of 3rd fingers. Additional variable manifestations include bifid toes and severe syndactyly, or synpolydactyly, involving all digits of hands and feet. Is a True Camptodactyly Inferred relationship Some
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. Is a True Camptodactyly Inferred relationship Some
Hereditary camptodactyly Is a True Camptodactyly Inferred relationship Some
Camptodactyly of bilateral fingers Is a False Camptodactyly Inferred relationship Some
Camptodactyly of bilateral toes (disorder) Is a True Camptodactyly Inferred relationship Some
Camptodactyly of finger (disorder) Is a True Camptodactyly Inferred relationship Some
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. Is a True Camptodactyly Inferred relationship Some
Sporadic camptodactyly Is a True Camptodactyly Inferred relationship Some

This concept is not in any reference sets

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