Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Bony swelling of thumb |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
1 |
Replantation of thumb between carpometacarpal and metacarpophalangeal joints after complete amputation (procedure) |
Procedure site - Direct (attribute) |
False |
Thumb structure |
Inferred relationship |
Some |
1 |
Pollicisation of finger |
Procedure site - Direct (attribute) |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Reconstruction of thumb with toe |
Procedure site - Direct (attribute) |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Replantation of thumb between distal tip and metacarpophalangeal joint after complete amputation (procedure) |
Procedure site - Direct (attribute) |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Replantation of thumb between carpometacarpal and metacarpophalangeal joints after complete amputation (procedure) |
Procedure site - Direct (attribute) |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Congenital malformation of thumb (disorder) |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
1 |
Polydactyly of thumb |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
1 |
Acrocephalosyndactyly type V (disorder) |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
1 |
Acrocephalosyndactyly type V (disorder) |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
1 |
Deep laceration of thumb (disorder) |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
1 |
Polydactyly of thumb |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
1 |
Congenital malformation of thumb (disorder) |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Debridement of thumb (procedure) |
Procedure site - Direct (attribute) |
False |
Thumb structure |
Inferred relationship |
Some |
1 |
Superficial laceration of thumb (disorder) |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
1 |
Fluoroscopy of thumb (procedure) |
Procedure site - Direct (attribute) |
False |
Thumb structure |
Inferred relationship |
Some |
1 |
Deep laceration of thumb (disorder) |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Debridement of thumb (procedure) |
Procedure site - Direct (attribute) |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Reamputation of thumb (procedure) |
Procedure site - Direct (attribute) |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Fluoroscopy of thumb (procedure) |
Procedure site - Direct (attribute) |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Cellulitis of thumb |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Congenital absence of thumb |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
Hypoplastic thumb-Blauth 5 |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
Hypoplastic thumb-Blauth 5 |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
3 |
Hypoplastic thumb-Blauth 2 |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
Hypoplastic thumb-Blauth 2 |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
3 |
Hypoplastic thumb-Blauth 3 |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
Hypoplastic thumb-Blauth 3 |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
3 |
Hypoplastic thumb-Blauth 4 (disorder) |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
Hypoplastic thumb-Blauth 4 (disorder) |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
3 |
Hypoplasia of thumb |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
Hypoplasia of thumb |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
3 |
Hypoplastic thumb-Blauth 1 |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
Hypoplastic thumb-Blauth 1 |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
3 |
Bifid thumb |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
Congenital malformation of thumb (disorder) |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
Acrocephalosyndactyly type V (disorder) |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
Brachysyndactyly of thumb |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
4 |
Syndactyly of thumb (disorder) |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
Acrosyndactyly of thumb (disorder) |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Bifid thumb |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Thumb onychia |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
1 |
Abscess of thumb (disorder) |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Stabilization of hypoplastic thumb |
Procedure site - Direct (attribute) |
False |
Thumb structure |
Inferred relationship |
Some |
3 |
Repositioning of thumb for cleft hand |
Procedure site - Direct (attribute) |
False |
Thumb structure |
Inferred relationship |
Some |
3 |
Brachysyndactyly of thumb |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
Syndactyly of thumb (disorder) |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Operation on thumb (procedure) |
Procedure site - Direct (attribute) |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Polydactyly of thumb |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
Mallet thumb with closed tendon injury |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
Reconstruction of thumb with skin flap |
Procedure site - Direct (attribute) |
False |
Thumb structure |
Inferred relationship |
Some |
1 |
Triphalangeal thumb |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
4 |
Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia. |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
5 |
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
5 |
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
6 |
Triphalangeal thumb |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
1 |
Polydactyly of a triphalangeal thumb or PPD2 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia. |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
1 |
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
1 |
Trigonocephaly-broad thumbs syndrome is characterized by neonatal trigonocephaly and multiple anomalies including craniosynostosis, shallow orbits, unusual nose, deviation of the terminal phalanges of fingers 1, 2, and 5, and broad toes with duplication of the terminal phalanx. It has been described in a mother and her son. It is transmitted as an autosomal dominant trait. |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
6 |
A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed. |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed. |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
3 |
Triphalangeal thumb and polysyndactyly syndrome (disorder) |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
3 |
Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
3 |
Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit. |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
4 |
A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported. |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
5 |
A rare genetic disease characterized by the association of unilateral complete or partial lung agenesis, complex congenital cardiac anomalies such as atrial septal defect, total anomalous pulmonary venous return, or patent ductus arteriosus, and ipsilateral or bilateral thumb abnormalities. Presence of facial dysmorphism and other malformative features has also been reported. |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
3 |
A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism. |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
4 |
Polydactyly of biphalangeal thumb (disorder) |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Triphalangeal thumb and dislocation of patella syndrome (disorder) |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981. |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
7 |
Structure of left thumb (body structure) |
Is a |
True |
Thumb structure |
Inferred relationship |
Some |
|
Structure of right thumb (body structure) |
Is a |
True |
Thumb structure |
Inferred relationship |
Some |
|
Laceration of blood vessel of thumb (disorder) |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
Fixed extension deformity of the thumb |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
Rotational deformity of thumb |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990. |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Structure of nail unit of thumb (body structure) |
Is a |
False |
Thumb structure |
Inferred relationship |
Some |
|
Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally placed thumbs, and skin hyperpigmentation with areas of raindrop depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988. |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
3 |
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterized by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
4 |
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
2 |
A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism. |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
2 |
Triphalangeal thumb and polysyndactyly syndrome (disorder) |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
1 |
A type of arthrogryposis characterized by congenital cleft palate, microcephaly, craniostenosis and arthrogryposis (limitation of extension of elbows, flexed adducted thumbs, camptodactyly and clubfeet). Additional features include facial dysmorphism (myopathic stiff face, antimongoloid slanting, external ophthalmoplegia, telecanthus, low-set large malrotated ears, open mouth, microgenia and high arched palate). Velopharyngeal insufficiency with difficulties in swallowing, increased secretion of the nose and throat, prominent occiput, generalized muscular hypotonia with mild cyanosis and no spontaneous movements, seizures, torticollis, areflexia, intellectual disability, hypertrichosis of the lower extremities, and scleredema are also observed. The disease often leads to early death. Transmission is autosomal recessive. No new cases have been described since 1983. |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
A rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis. There have been no new reports since 1981. |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
2 |
Triphalangeal thumb and dislocation of patella syndrome (disorder) |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
1 |
Plain X-ray of thumb (procedure) |
Procedure site - Direct (attribute) |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Infected thumb |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Structure of thumb joint region |
Is a |
True |
Thumb structure |
Inferred relationship |
Some |
|
Contusion of blood vessel of thumb (disorder) |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
Laceration of thumb with foreign body (disorder) |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
2 |
Laceration of thumb with foreign body (disorder) |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Open bite of thumb (disorder) |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Puncture wound of thumb with foreign body (disorder) |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
2 |
Puncture wound of thumb with foreign body (disorder) |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
Puncture wound of thumb without foreign body (disorder) |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
1 |
An X-linked clinical subtype of L1 syndrome with characteristics of mild to moderate intellectual disability, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs and mild to moderate distension of the cerebral ventricles. |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
3 |
Traumatic amputation of thumb with complication |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
Malignant neoplasm of connective and soft tissue of thumb |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
3 |
Injury of blood vessel of thumb (disorder) |
Finding site |
False |
Thumb structure |
Inferred relationship |
Some |
2 |
Radial polydactyly |
Finding site |
True |
Thumb structure |
Inferred relationship |
Some |
1 |