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20948006: Congenital anomaly of finger (disorder)

Status: current, 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
35219016 Congenital anomaly of finger en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
750188013 Congenital anomaly of finger (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4457391000241119 anomalie congénitale d'un doigt fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

266 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of finger (disorder) Is a Disorder of finger true Inferred relationship Some
Congenital anomaly of finger (disorder) Is a Congenital anomaly of upper limb false Inferred relationship Some
Congenital anomaly of finger (disorder) Finding site Connective tissue false Inferred relationship Some
Congenital anomaly of finger (disorder) Finding site Finger structure false Inferred relationship Some 1
Congenital anomaly of finger (disorder) Associated morphology anomalie du développement false Inferred relationship Some
Congenital anomaly of finger (disorder) Finding site Musculoskeletal structure of upper limb false Inferred relationship Some
Congenital anomaly of finger (disorder) Occurrence Congenital false Inferred relationship Some
Congenital anomaly of finger (disorder) Is a Congenital anomaly of hand (disorder) true Inferred relationship Some
Congenital anomaly of finger (disorder) Finding site Upper extremity, including shoulder, arm, forearm, wrist, and hand false Inferred relationship Some 1
Congenital anomaly of finger (disorder) Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of finger (disorder) Is a Congenital anomaly of digit (disorder) true Inferred relationship Some
Congenital anomaly of finger (disorder) Finding site Finger structure false Inferred relationship Some 1
Congenital anomaly of finger (disorder) Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of finger (disorder) Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of finger (disorder) Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital anomaly of finger (disorder) Finding site Finger structure false Inferred relationship Some 2
Congenital anomaly of finger (disorder) Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of finger (disorder) Finding site Finger structure true Inferred relationship Some 1
Congenital anomaly of finger (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital anomaly of finger (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
pollice a scatto congenito Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Proximal interphalangeal joint symphalangism Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Distal interphalangeal joint symphalangism Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Acrosyndactyly of thumb (disorder) Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Acrosyndactyly of the fingers Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Undergrowth of the thumb Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Camptodactyly Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Syndactyly of fingers Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Partial aphalangia of upper limb Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Bifid thumb Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Overriding fingers Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Macrodactylia of fingers Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Complete aphalangia of upper limb Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital hypoplasia of finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Polydactyly of fingers Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital hypoplasia of forepaw phalanx Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital clinodactyly Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Flexion deformity of fingers Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Longitudinal deficiency of phalanges of hand Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital absence of finger Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Arachnodactyly Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Brachymegalodactyly Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies). Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
A rare congenital malformation characterised by a unilateral, complete or partial, absence of the pectoralis major (and often minor) muscle, ipsilateral breast and nipple anomalies, hypoplasia of the pectoral subcutaneous tissue, absence of pectoral and axillary hair, and possibly accompanied by chest wall and/or upper limb defects. Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Delta phalanx of finger Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Complete aphalangia of upper limb Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Partial aphalangia of upper limb Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital onychodysplasia of index fingers (disorder) Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
pollice a scatto congenito Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital trigger finger and trigger thumb Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Symbrachydactyly Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females. Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis. Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital radial deviation of finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital club finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
A rare, genetic, epilepsy syndrome characterized by epilepsy, palpebral conjunctival telangiectasias, borderline to moderate intellectual disability, diminished serum IgA levels, shortened fifth fingers and dysmorphic facial features (including frontal hirsutism, synophrys, anteverted nostrils, prominent ears, long philtrum, irregular teeth implantation, micrognathia). No new cases have been described in the literature since 1978. Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital trigger finger of right hand Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital trigger finger of left hand (disorder) Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital deformity of right finger Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital deformity of left finger Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital cleft hand Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Extensor tendons of finger anomalies is a rare, genetic, congenital limb malformation characterized by bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the mid phalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980. Is a True Congenital anomaly of finger (disorder) 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 Congenital anomaly of finger (disorder) 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 Congenital anomaly of finger (disorder) 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 Congenital anomaly of finger (disorder) 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 Congenital anomaly of finger (disorder) 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 Congenital anomaly of finger (disorder) 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 Congenital anomaly of finger (disorder) 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 True Congenital anomaly of finger (disorder) 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 Congenital anomaly of finger (disorder) Inferred relationship Some
A congenital malformation characterised by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait. Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital clinodactyly of finger Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Camptodactyly of finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by mild global developmental delay, intellectual disability or learning difficulties, behavioral problems (like autistic, hyperactive, or aggressive behavior), variable dysmorphic craniofacial features, and abnormalities of the fingers (brachydactyly, tapering fingers, prominent interphalangeal joints). Additional manifestations are highly variable and include recurrent infections and skeletal anomalies, among others. Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982. Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers. Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal broad shape of middle phalanx of finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal broad shape of distal phalanx of finger Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal bullet shape of middle phalanx of finger Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal bullet shape of phalanx of index finger (disorder) Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal bullet shape of phalanx of middle finger (disorder) Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal bullet shape of phalanx of little finger Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal bullet shape of phalanx of ring finger Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal bullet shape of proximal phalanx of finger (disorder) Is a False Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal cone shape of epiphysis of phalanx of finger Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal slender shape of distal phalanx of finger Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal rhomboid shape of distal phalanx of little finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal rhomboid shape of middle phalanx of little finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal rhomboid shape of proximal phalanx of little finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal slender shape of middle phalanx of finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal slender shape of proximal phalanx of finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal triangular shape of epiphysis of phalanx of index finger Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal triangular shape of middle phalanx of finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal triangular shape of phalanx of little finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal triangular shape of phalanx of middle finger Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal triangular shape of phalanx of ring finger Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal triangular shape of phalanx of index finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal triangular shape of proximal phalanx of finger Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital ankylosis of metacarpophalangeal joint of little finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital ankylosis of interphalangeal joint of finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital ankylosis of metacarpophalangeal joint of index finger Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital ankylosis of metacarpophalangeal joint of middle finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital ankylosis of metacarpophalangeal joint of ring finger Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital clinodactyly of ring finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital clinodactyly of middle finger Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital clinodactyly of index finger Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital clinodactyly of distal phalanx of little finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal broad shape of proximal phalanx of finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal broad shape of phalanx of index finger Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal broad shape of phalanx of middle finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal broad shape of phalanx of little finger Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital abnormal broad shape of phalanx of ring finger Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Abnormally short index finger Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Abnormally short little finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Abnormally short middle finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Abnormally short phalanx of finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Abnormally short ring finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Abnormal tapering of phalanx of finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some
Congenital dysplasia of nail unit of finger (disorder) Is a True Congenital anomaly of finger (disorder) Inferred relationship Some

This concept is not in any reference sets

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