20948006: Congenital anomaly of finger (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of finger\Congenital anomaly of finger
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger
\Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of finger\Disorder of finger\Congenital anomaly of finger
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Congenital anomaly of finger
\Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of finger\Congenital anomaly of finger
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Congenital anomaly of finger
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Congenital anomaly of hand (disorder)\Congenital anomaly of finger
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Congenital anomaly of finger
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of hand (disorder)\Congenital anomaly of finger

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

4325831000005119 kongenit anomali i anden finger end tommelfinger da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of finger	Is a	Disorder of finger	true	Inferred relationship	Some
Congenital anomaly of finger	Is a	Congenital anomaly of upper limb	false	Inferred relationship	Some
Congenital anomaly of finger	Finding site	Connective tissue (substance)	false	Inferred relationship	Some
Congenital anomaly of finger	Finding site	Finger structure	false	Inferred relationship	Some	1
Congenital anomaly of finger	Associated morphology	dysgenese	false	Inferred relationship	Some
Congenital anomaly of finger	Finding site	Musculoskeletal structure of upper limb	false	Inferred relationship	Some
Congenital anomaly of finger	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of finger	Is a	Congenital anomaly of hand (disorder)	true	Inferred relationship	Some
Congenital anomaly of finger	Finding site	Upper extremity, including shoulder, arm, forearm, wrist, and hand	false	Inferred relationship	Some	1
Congenital anomaly of finger	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of finger	Is a	Congenital anomaly of digit (disorder)	true	Inferred relationship	Some
Congenital anomaly of finger	Finding site	Finger structure	false	Inferred relationship	Some	1
Congenital anomaly of finger	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Congenital anomaly of finger	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of finger	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Congenital anomaly of finger	Finding site	Finger structure	false	Inferred relationship	Some	2
Congenital anomaly of finger	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of finger	Finding site	Finger structure	true	Inferred relationship	Some	1
Congenital anomaly of finger	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of finger	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Kongenit tommel-springfinger	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Proximal interphalangeal joint symphalangism	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Distal interphalangeal joint symphalangism	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Acrosyndactyly of thumb (disorder)	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Acrosyndactyly of the fingers	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Underudvikling af tommelfinger	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Camptodactyly	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Syndactyly of fingers	Is a	True	Congenital anomaly of finger	Inferred relationship	Some
Partial aphalangia of upper limb	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Bifid thumb	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Overriding fingers	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Macrodactylia of fingers	Is a	True	Congenital anomaly of finger	Inferred relationship	Some
Complete aphalangia of upper limb	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Congenital hypoplasia of finger (disorder)	Is a	True	Congenital anomaly of finger	Inferred relationship	Some
Polydactyly of fingers (disorder)	Is a	True	Congenital anomaly of finger	Inferred relationship	Some
Congenital hypoplasia of forepaw phalanx	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Congenital clinodactyly	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Flexion deformity of fingers	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Longitudinal deficiency of phalanges of hand	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Congenital absence of finger	Is a	True	Congenital anomaly of finger	Inferred relationship	Some
Arachnodactyly	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Brachymegalodactyly	Is a	False	Congenital anomaly of finger	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	Inferred relationship	Some
Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. Various anomalies of the breasts and nipples, and variable involvement of the hand and forearm (some patients having normal hands) have also been reported. The absence of other muscles around the shoulder girdle is a frequent feature. The syndrome is thought to be of vascular origin, for example a result of a disruption in the blood supply in the subclavian artery. Poland syndrome is most commonly a sporadic condition, but rare familial cases have been reported, compatible with an autosomal dominant mode of inheritance.	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Delta phalanx of finger	Is a	True	Congenital anomaly of finger	Inferred relationship	Some
Complete aphalangia of upper limb	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Partial aphalangia of upper limb	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Congenital onychodysplasia of index fingers (disorder)	Is a	True	Congenital anomaly of finger	Inferred relationship	Some
Kongenit tommel-springfinger	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Congenital trigger finger and trigger thumb	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Symbrachydactyly	Is a	False	Congenital anomaly of finger	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	True	Congenital anomaly of finger	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	Inferred relationship	Some
Congenital radial deviation of finger (disorder)	Is a	True	Congenital anomaly of finger	Inferred relationship	Some
Congenital club finger (disorder)	Is a	True	Congenital anomaly of finger	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	True	Congenital anomaly of finger	Inferred relationship	Some
Congenital trigger finger of right hand	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Congenital trigger finger of left hand (disorder)	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
Congenital deformity of right finger	Is a	True	Congenital anomaly of finger	Inferred relationship	Some
Congenital deformity of left finger	Is a	True	Congenital anomaly of finger	Inferred relationship	Some
Congenital cleft hand	Is a	False	Congenital anomaly of finger	Inferred relationship	Some
A rare genetic congenital limb malformation with characteristics of 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	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	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	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	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	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	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	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	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	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	True	Congenital anomaly of finger	Inferred relationship	Some
Congenital clinodactyly of finger	Is a	True	Congenital anomaly of finger	Inferred relationship	Some
Camptodactyly of finger (disorder)	Is a	True	Congenital anomaly of finger	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	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	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	Inferred relationship	Some

This concept is not in any reference sets

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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
4325831000005119	kongenit anomali i anden finger end tommelfinger	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)