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361367007: Entire digit (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
478304010 Entire digit en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
744747016 Entire digit (body structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

22 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Entire digit Is a Entire body part false Inferred relationship Some
Entire digit Is a Digit structure true Inferred relationship Some
Entire digit partie de Entire limb false Additional relationship Some
Entire digit Laterality Side (qualifier value) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Structure of middle phalanx of foot (body structure) partie de False Entire digit Additional relationship Some
Structure of proximal phalanx of foot (body structure) partie de False Entire digit Additional relationship Some
Bone part of distal phalanx of finger partie de False Entire digit Inferred relationship Some
Entire articular surface, phalanges, of fifth metacarpal bone partie de False Entire digit Additional relationship Some
Structure of articular surface, phalanges, of fifth metacarpal bone partie de False Entire digit Additional relationship Some
Entire third phalanx of digit III of equine limb partie de False Entire digit Additional relationship Some
Pastern bones of hindlimb partie de False Entire digit Additional relationship Some
Pastern bones of forelimb partie de False Entire digit Additional relationship Some
P3 of ruminant digit IV partie de False Entire digit Additional relationship Some
P3 of ruminant digit III partie de False Entire digit Additional relationship Some
Structure of third phalanx of digit III of equine limb partie de False Entire digit Additional relationship Some
P3 of Digit III of equine hindlimb partie de False Entire digit Additional relationship Some
P3 of Digit III of equine forelimb partie de False Entire digit Additional relationship Some
P2 of ruminant digit IV partie de False Entire digit Additional relationship Some
P2 of ruminant digit III partie de False Entire digit Additional relationship Some
P2 of Digit III of equine hindlimb partie de False Entire digit Additional relationship Some
P2 of Digit III of equine forelimb partie de False Entire digit Additional relationship Some
P2 of digit III of equine limb partie de False Entire digit Additional relationship Some
P1 of ruminant digit III partie de False Entire digit Additional relationship Some
P1 of Digit III of equine limb partie de False Entire digit Additional relationship Some
P1 of Digit III of equine hindlimb partie de False Entire digit Additional relationship Some
P1 of Digit III of equine forelimb partie de False Entire digit Additional relationship Some
Interphalangeal joint structure (body structure) partie de False Entire digit Additional relationship Some
Cleft hand with syndactyly Finding site False Entire digit Inferred relationship Some 1
Cleft hand with polydactyly Finding site False Entire digit Inferred relationship Some 1
Cleft hand - central Finding site False Entire digit Inferred relationship Some 1
Congenital cleft hand Finding site False Entire digit Inferred relationship Some 1
Ectrodactyly Finding site True Entire digit Inferred relationship Some 1
Split foot Finding site False Entire digit Inferred relationship Some 1
Cleft hand - first cleft Finding site False Entire digit Inferred relationship Some 1
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site False Entire digit Inferred relationship Some 1
Sarcoid dactylitis Finding site False Entire digit Inferred relationship Some 2
Hand-foot syndrome in sickle cell anemia (disorder) Finding site True Entire digit Inferred relationship Some 2
Tuberculous dactylitis Finding site True Entire digit Inferred relationship Some 2
Dactylitis Finding site False Entire digit Inferred relationship Some 2
Blistering distal dactylitis Finding site False Entire digit Inferred relationship Some 2
Psoriatic dactylitis Finding site True Entire digit Inferred relationship Some 1
Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Finding site True Entire digit Inferred relationship Some 2
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. Finding site False Entire digit Inferred relationship Some 7
A rare congenital limb malformation characterized by bifid femur, absent or hypoplastic tibia and ulna with limb shortening, oligodactyly, and ectrodactyly. Finding site True Entire digit Inferred relationship Some 2
Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized. Finding site True Entire digit Inferred relationship Some 2
Weill-Marchesani syndrome (disorder) Finding site True Entire digit Inferred relationship Some 1
Brachymegalodactyly Finding site True Entire digit Inferred relationship Some 1
Brachydactyly Finding site False Entire digit Inferred relationship Some 1
Brachydactyly syndrome type E Finding site False Entire digit Inferred relationship Some 1
Microdactyly Finding site False Entire digit Inferred relationship Some 2
symbrachydactylie Finding site False Entire digit Inferred relationship Some 2
Brachydactyly syndrome type B (disorder) Finding site True Entire digit Inferred relationship Some 1
Brachydactyly syndrome type C (disorder) Finding site True Entire digit Inferred relationship Some 1
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. Finding site False Entire digit Inferred relationship Some 9
A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. Finding site False Entire digit Inferred relationship Some 6
A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood. Finding site False Entire digit Inferred relationship Some 5
A rare, congenital limb malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the fifth finger. On radiographs, the middle phalanx of the index fingers often appear triangular and in severely affected cases, the index finger is curved radially. The lower limb phenotype is generally milder. Finding site True Entire digit Inferred relationship Some 1
A very rare congenital malformation of the digits with the absence of the middle phalanges (usually of digits two to five), nail dysplasia and duplicated terminal phalanx of the thumb. Has been described in patients from two unrelated families. Finding site True Entire digit Inferred relationship Some 1
A rare dysostosis with brachydactyly characterized by variable combinations of features of brachydactyly types A2 (such as delta-shaped middle phalanx of the second finger or toe) and D (short, broad distal phalanx of the thumb) and other types of brachydactyly (symphalangism), as well as unique features (dislocatable thumbs, lateral deviation of second toes with elevation of first toes). There have been no further descriptions in the literature since 1989. Finding site True Entire digit Inferred relationship Some 1
Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common. Finding site False Entire digit Inferred relationship Some 2
A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Finding site False Entire digit Inferred relationship Some 7
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. Finding site False Entire digit Inferred relationship Some 7
A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. Finding site False Entire digit Inferred relationship Some 5
A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. Finding site False Entire digit Inferred relationship Some 3
A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Finding site True Entire digit Inferred relationship Some 3
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. Finding site False Entire digit Inferred relationship Some 8
A rare congenital malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B. The hand and feet defects comprise of shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Finding site False Entire digit Inferred relationship Some 5
Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus. Finding site False Entire digit Inferred relationship Some 9
Ballard syndrome has characteristics of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. The syndrome has been described in 12 members from four generations of one family. Transmission appears to be autosomal dominant. Finding site False Entire digit Inferred relationship Some 2
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. Finding site False Entire digit Inferred relationship Some 8
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Finding site False Entire digit Inferred relationship Some 6
Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects. There have been no further descriptions in the literature since 1987. Finding site False Entire digit Inferred relationship Some 10
A rare congenital limb malformation characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits. Intellectual deficit was observed in all reported individuals. There have been no further reports since 1994. Finding site True Entire digit Inferred relationship Some 2
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. Finding site False Entire digit Inferred relationship Some 5
Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. Finding site False Entire digit Inferred relationship Some 2
Symbrachydactyly Finding site True Entire digit Inferred relationship Some 1
Intellectual disability-spasticity-ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly, clinodactyly of the hands and/or feet). Finding site True Entire digit Inferred relationship Some 2
A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated. Finding site True Entire digit Inferred relationship Some 2
Ectrodactyly-polydactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by hypoplasia or absence of central digital rays of the hands and/or feet and the presence of one or more, unilateral or bilateral, supernumerary digits on postaxial rays, ranging from hypoplastic digits devoid of osseous structures to complete duplication of a digit. Cutaneous syndactyly, symphalangism and clinodactyly have also been reported. There have been no further descriptions in the literature since 1982. Finding site True Entire digit Inferred relationship Some 2
Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterised by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992. Finding site True Entire digit Inferred relationship Some 1
Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common. Finding site True Entire digit Inferred relationship Some 1
Brachydactyly syndrome type E Finding site True Entire digit Inferred relationship Some 2
Ectrodactyly-ectodermal dysplasia-clefting syndrome Finding site True Entire digit Inferred relationship Some 3
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. Finding site True Entire digit Inferred relationship Some 2
A rare, genetic, congenital dysostosis disorder characterized by fibular aplasia (or hypoplasia) associated with ectrodactyly and/or brachydactyly or syndactyly. Additional variable features include shortening of the femur, as well as tibial, hip, knee, and/or ankle defects. Finding site True Entire digit Inferred relationship Some 1
Microdactyly Finding site True Entire digit Inferred relationship Some 1
Split hand - split foot - deafness is an extremely rare genetic syndrome reported in a few families to date and characterized clinically by split hand/split foot malformation and mild to moderate sensorineural hearing loss, sometimes associated with cleft palate and intellectual deficit. Finding site False Entire digit Inferred relationship Some 2
A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. Finding site True Entire digit Inferred relationship Some 1
Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested. Finding site True Entire digit Inferred relationship Some 1
A rare congenital malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism. Finding site True Entire digit Inferred relationship Some 1
Ballard syndrome has characteristics of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature. The syndrome has been described in 12 members from four generations of one family. Transmission appears to be autosomal dominant. Finding site True Entire digit Inferred relationship Some 1
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. Finding site True Entire digit Inferred relationship Some 3
Microcephaly-brachydactyly-kyphoscoliosis syndrome is characterized by profound intellectual deficit in association with microcephaly, short stature, brachydactyly type D, a flattened occiput, downslanting palpebral fissures, low-set large ears, a broad prominent nose and kyphoscoliosis. It has been described in three sisters. The disorder is likely to be transmitted as an autosomal recessive trait. Finding site True Entire digit Inferred relationship Some 1
A rare autosomal dominant form of heart-hand syndrome that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. Finding site True Entire digit Inferred relationship Some 2
Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females cannot be ruled out. Finding site True Entire digit Inferred relationship Some 1
A rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood. Finding site True Entire digit Inferred relationship Some 1
Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Finding site False Entire digit Inferred relationship Some 1
A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia. Finding site True Entire digit Inferred relationship Some 2
Juvenile reactive arthritis triad Finding site False Entire digit Inferred relationship Some 5
Oral lesion co-occurrent with reactive arthritis triad Finding site False Entire digit Inferred relationship Some 7
Circinate vulvovaginitis co-occurrent with reactive arthritis triad (disorder) Finding site False Entire digit Inferred relationship Some 7
Circinate balanitis co-occurrent with reactive arthritis triad (disorder) Finding site False Entire digit Inferred relationship Some 6
Nail dystrophy co-occurrent with reactive arthritis triad (disorder) Finding site False Entire digit Inferred relationship Some 6
Axial spondyloarthritis (disorder) Finding site False Entire digit Inferred relationship Some 2
Ankylosing spondylitis co-occurrent with anterior uveitis Finding site False Entire digit Inferred relationship Some 6

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Lateralizable body structure reference set (foundation metadata concept)

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