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82680008: Digit structure (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
137158015 Digit en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
505212016 Digit structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
824153016 Digit structure (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2758 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Digit structure Is a Limb part (body structure) true Inferred relationship Some
Digit structure partie de Entire limb false Additional relationship Some
Digit structure Laterality Side (qualifier value) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Drainage of pulp abscess of digit (procedure) Procedure site - Indirect (attribute) False Digit structure Inferred relationship Some 1
Symbrachydactyly of toe (disorder) Finding site False Digit structure Inferred relationship Some 1
Symbrachydactyly of toe (disorder) Finding site False Digit structure Inferred relationship Some 1
Drainage of pulp abscess of digit (procedure) Procedure site - Indirect (attribute) False Digit structure Inferred relationship Some 1
Digital mucous cyst (disorder) Finding site False Digit structure Inferred relationship Some 1
Excision of supernumerary digit containing bone (procedure) Procedure site - Direct (attribute) True Digit structure Inferred relationship Some 1
Digital mucous cyst (disorder) Finding site True Digit structure Inferred relationship Some 1
Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. Finding site False Digit structure Inferred relationship Some 3
Excision of supernumerary digit with soft tissue involvement only Procedure site - Direct (attribute) True Digit structure Inferred relationship Some 1
Correction of syndactyly with skin flap Procedure site - Direct (attribute) False Digit structure Inferred relationship Some 3
Correction of syndactyly with skin flap Procedure site - Direct (attribute) False Digit structure Inferred relationship Some 5
Correction of syndactyly with skin flap and graft Procedure site - Direct (attribute) False Digit structure Inferred relationship Some 4
Correction of syndactyly with skin flap and graft Procedure site - Direct (attribute) False Digit structure Inferred relationship Some 6
Brachymegalodactyly Finding site False Digit structure Inferred relationship Some 3
Brachymegalodactyly Finding site False Digit structure Inferred relationship Some 4
Congenital anomaly of digit (disorder) Finding site False Digit structure Inferred relationship Some 2
Rudimentary digit (disorder) Finding site False Digit structure Inferred relationship Some 2
Symbrachydactyly of toe (disorder) Finding site False Digit structure Inferred relationship Some 2
Symbrachydactyly Finding site True Digit structure Inferred relationship Some 2
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) Finding site False Digit structure Inferred relationship Some 1
Congenital abnormal shape of digit Finding site False Digit structure Inferred relationship Some 2
à l'examen : arachnodactylie des mains Finding site False Digit structure Inferred relationship Some 3
Congenital contractural arachnodactyly Finding site False Digit structure Inferred relationship Some 3
Microdactyly Finding site False Digit structure Inferred relationship Some 3
Arachnodactyly Finding site False Digit structure Inferred relationship Some 3
Congenital macrodactyly (disorder) Finding site False Digit structure Inferred relationship Some 3
Congenital malposition of digit Finding site False Digit structure Inferred relationship Some 2
Complex syndactyly of fingers Finding site False Digit structure Inferred relationship Some 2
Syndactyly of fingers with fusion of bones Finding site False Digit structure Inferred relationship Some 2
Timothy syndrome is a multi-system disorder with characteristics of cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders. Timothy syndrome is caused by mutations in the CACNA1C gene. It is inherited as autosomal dominant trait. Finding site True Digit structure Inferred relationship Some 1
Simple syndactyly of fingers Finding site False Digit structure Inferred relationship Some 2
Osseous syndactyly of fingers - second to fourth web Finding site False Digit structure Inferred relationship Some 2
Syndactyly of fingers Finding site False Digit structure Inferred relationship Some 2
Acrocephalosyndactyly type I Finding site False Digit structure Inferred relationship Some 5
Polysyndactyly syndrome Finding site False Digit structure Inferred relationship Some 2
Syndactyly (disorder) Finding site False Digit structure Inferred relationship Some 2
Osseous syndactyly of fingers - first web Finding site False Digit structure Inferred relationship Some 2
Polysyndactyly Finding site True Digit structure Inferred relationship Some 2
Simple syndactyly of fingers - first web Finding site False Digit structure Inferred relationship Some 2
Brachydactyly syndrome type B (disorder) Finding site False Digit structure Inferred relationship Some 4
Simple syndactyly of fingers - second to fourth web Finding site False Digit structure Inferred relationship Some 2
Brachydactyly syndrome type C (disorder) Finding site False Digit structure Inferred relationship Some 4
symbrachydactylie Finding site False Digit structure Inferred relationship Some 1
symbrachydactylie Finding site False Digit structure Inferred relationship Some 4
Brachydactyly Finding site False Digit structure Inferred relationship Some 2
Aglossia-adactyly syndrome Finding site False Digit structure Inferred relationship Some 3
Brachydactyly syndrome type E Finding site False Digit structure Inferred relationship Some 4
Adactyly Finding site False Digit structure Inferred relationship Some 2
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. Finding site False Digit structure Inferred relationship Some 3
Weill-Marchesani syndrome (disorder) Finding site False Digit structure Inferred relationship Some 5
Congenital ankylodactyly Finding site False Digit structure Inferred relationship Some 2
Brachymegalodactyly Finding site True Digit structure Inferred relationship Some 2
Repair of macrodactyly Procedure site - Direct (attribute) False Digit structure Inferred relationship Some 2
Brachydactyly Finding site True Digit structure Inferred relationship Some 1
Hexadactyly Finding site True Digit structure Inferred relationship Some 1
Polydactyly Finding site True Digit structure Inferred relationship Some 1
Acrocephalosyndactyly Finding site False Digit structure Inferred relationship Some 2
Polydactyly of fingers Finding site False Digit structure Inferred relationship Some 3
Radial polydactyly Finding site False Digit structure Inferred relationship Some 3
Central polydactyly of fingers Finding site False Digit structure Inferred relationship Some 3
Ulnar polydactyly of fingers Finding site False Digit structure Inferred relationship Some 3
Radial polydactyly Wassel 7 Finding site False Digit structure Inferred relationship Some 3
Partial aphalangia of upper limb Finding site False Digit structure Inferred relationship Some 3
Acrocephalopolysyndactyly type III (disorder) Finding site True Digit structure Inferred relationship Some 2
Triphalangeal thumb Finding site False Digit structure Inferred relationship Some 3
Polydactyly of thumb Finding site False Digit structure Inferred relationship Some 3
Radial polydactyly Wassel 1 Finding site False Digit structure Inferred relationship Some 3
A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia. Finding site False Digit structure Inferred relationship Some 2
Radial polydactyly Wassel 2 Finding site False Digit structure Inferred relationship Some 3
Radial polydactyly Wassel 3 Finding site False Digit structure Inferred relationship Some 3
Radial polydactyly Wassel 4 Finding site False Digit structure Inferred relationship Some 3
Radial polydactyly Wassel 5 Finding site False Digit structure Inferred relationship Some 3
Radial polydactyly Wassel 6 Finding site False Digit structure Inferred relationship Some 3
Acrocephalopolysyndactyly Finding site True Digit structure Inferred relationship Some 2
Bifid digit Finding site False Digit structure Inferred relationship Some 2
Congenital macrodactyly (disorder) Finding site False Digit structure Inferred relationship Some 2
Repair of syndactyly Procedure site - Direct (attribute) False Digit structure Inferred relationship Some 3
Correction of complicated syndactyly Procedure site - Direct (attribute) False Digit structure Inferred relationship Some 3
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder) Finding site True Digit structure Inferred relationship Some 2
Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested. Finding site True Digit structure Inferred relationship Some 2
A rare non-syndromic syndactyly characterized by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges. Finding site True Digit structure Inferred relationship Some 1
A rare non-syndromic syndactyly characterized by a distinctive combination of syndactyly and polydactyly, generally affecting the 3rd and 4th fingers and the 4th and 5th toes, bilaterally, with partial or complete reduplication of a digital ray within the syndactylous web. Additional features include 5th finger clinodactyly, camptodactyly and/or brachydactyly. Finding site True Digit structure Inferred relationship Some 2
A rare non-syndromic syndactyly characterized by a distinctive combination of syndactyly and polydactyly, generally affecting the 3rd and 4th fingers and the 4th and 5th toes, bilaterally, with partial or complete reduplication of a digital ray within the syndactylous web. Additional features include 5th finger clinodactyly, camptodactyly and/or brachydactyly. Finding site False Digit structure Inferred relationship Some 3
A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene. Finding site False Digit structure Inferred relationship Some 2
A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, with an extra, well-formed, functional digit at the metacarpophalangeal/metatarsophalangeal or carpometacarpal/tarsometatarsal joint. The malformation can be an isolated finding or be associated with a large number of other anomalies. Finding site False Digit structure Inferred relationship Some 3
A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, the sixth digit being rudimentary, poorly developed, and non-functional, frequently consisting of additional soft tissue on a pedicle. The anomaly can be unilateral or bilateral. Finding site False Digit structure Inferred relationship Some 3
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 Digit structure Inferred relationship Some 3
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. Finding site False Digit structure Inferred relationship Some 3
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder) Finding site False Digit structure Inferred relationship Some 3
Familial digital arthropathy-brachydactyly is characterized by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant. Finding site False Digit structure Inferred relationship Some 2
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. Finding site False Digit 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 Digit structure Inferred relationship Some 9
A rare non-syndromic syndactyly characterized by complete bilateral cutaneous fusion of all fingers, frequently associated with polydactyly (usually involving six digits and six metacarpals). Phalanges may fuse as a conglomerate mass of bones. Feet are occasionally affected. Finding site True Digit structure Inferred relationship Some 1
A rare non-syndromic syndactyly characterized by soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported. Finding site True Digit structure Inferred relationship Some 1
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Finding site False Digit structure Inferred relationship Some 4
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Finding site False Digit structure Inferred relationship Some 9
This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence. Finding site False Digit structure Inferred relationship Some 7
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 False Digit structure Inferred relationship Some 8
Triphalangeal thumb and polysyndactyly syndrome (disorder) Finding site True Digit structure Inferred relationship Some 2
Chronic tophaceous gout of digit Finding site True Digit structure Inferred relationship Some 1
A rare syndrome characterized by a combination of distal limb abnormalities (syndactyly of all fingers and toes, preaxial polydactyly in the feet and/or hands) and upper sternum malformations. Finding site False Digit structure Inferred relationship Some 2

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Reference Sets

Lateralizable body structure reference set (foundation metadata concept)

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

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