367506006: Polydactyly (disorder)

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

\Finding of limb structure\Disorder of limb (disorder)\...

\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly
\Congenital anomaly of limb\Polymelia\Polydactyly

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Polydactyly
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Polymelia\Polydactyly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Polydactyly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Polymelia\Polydactyly

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2007. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Polydactyly	Is a	Congenital anomaly of limb	false	Inferred relationship	Some
Polydactyly	Is a	Disorder of digit	false	Inferred relationship	Some
Polydactyly	Finding site	Musculoskeletal structure of limb	false	Inferred relationship	Some
Polydactyly	Associated morphology	dysgenese	false	Inferred relationship	Some
Polydactyly	Finding site	Connective tissue (substance)	false	Inferred relationship	Some
Polydactyly	Finding site	Digit structure	false	Inferred relationship	Some	1
Polydactyly	Occurrence	Congenital	false	Inferred relationship	Some
Polydactyly	Associated morphology	Supernumerary structure	false	Inferred relationship	Some	1
Polydactyly	Is a	Congenital malformation	false	Inferred relationship	Some
Polydactyly	Is a	Congenital anomaly of digit (disorder)	true	Inferred relationship	Some
Polydactyly	Is a	Perodaktyli	false	Inferred relationship	Some
Polydactyly	Is a	Polymelia	true	Inferred relationship	Some
Polydactyly	Associated morphology	Supernumerary structure	false	Inferred relationship	Some	3
Polydactyly	Finding site	Digit structure	false	Inferred relationship	Some	3
Polydactyly	Occurrence	Congenital	false	Inferred relationship	Some	3
Polydactyly	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Polydactyly	Finding site	Limb structure	false	Inferred relationship	Some	2
Polydactyly	Is a	Disorder of digit	false	Inferred relationship	Some
Polydactyly	Occurrence	Congenital	true	Inferred relationship	Some	1
Polydactyly	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	1
Polydactyly	Finding site	Digit structure	true	Inferred relationship	Some	1
Polydactyly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hexadactyly	Is a	True	Polydactyly	Inferred relationship	Some
Phalanx of supernumerary digit of hand	Is a	False	Polydactyly	Inferred relationship	Some
Bifid digit	Is a	False	Polydactyly	Inferred relationship	Some
Polydaktyli med neonatal kondrodystrofi, type I	Is a	False	Polydactyly	Inferred relationship	Some
Polydactyly of toes	Is a	True	Polydactyly	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Is a	False	Polydactyly	Inferred relationship	Some
Polydactyly of fingers (disorder)	Is a	True	Polydactyly	Inferred relationship	Some
overtallige fingre eller tæer, uspecificeret	Is a	False	Polydactyly	Inferred relationship	Some
polydaktyli, ikke nærmere specificeret	Is a	False	Polydactyly	Inferred relationship	Some
Short rib-polydactyly syndrome, Majewski type	Is a	False	Polydactyly	Inferred relationship	Some
Supernumerary forepaw phalanx	Is a	False	Polydactyly	Inferred relationship	Some
polydaktyli af tommelfinger	Is a	False	Polydactyly	Inferred relationship	Some
Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation (disorder)	Is a	True	Polydactyly	Inferred relationship	Some
Cleft hand with polydactyly	Is a	True	Polydactyly	Inferred relationship	Some
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.	Is a	False	Polydactyly	Inferred relationship	Some
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.	Is a	True	Polydactyly	Inferred relationship	Some
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13.	Is a	True	Polydactyly	Inferred relationship	Some
Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)	Is a	True	Polydactyly	Inferred relationship	Some
Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.	Is a	True	Polydactyly	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuro-pituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported.	Is a	True	Polydactyly	Inferred relationship	Some
Hirschsprung disease-deafness-polydactyly syndrome is an extremely rare malformative association, described in only two siblings to date, characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to symptoms of intestinal obstruction, including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988.	Is a	True	Polydactyly	Inferred relationship	Some
A rare genetic disease characterized by the presence of Müllerian duct derivatives (rudimentary uterus, fallopian tubes, and atretic vagina) and other genital anomalies (cryptorchidism, micropenis) in male newborns, intestinal and pulmonary lymphangiectasia, protein-losing enteropathy, hepatomegaly, and renal anomalies. Postaxial polydactyly, facial dysmorphism (including broad nasal bridge, bulbous nasal tip, long and prominent upper lip with smooth philtrum, hypertrophic alveolar ridges, and mild retrognathia, among other features), and short limbs have also been described. The syndrome is fatal in infancy.	Is a	True	Polydactyly	Inferred relationship	Some
Dicheirus	Is a	True	Polydactyly	Inferred relationship	Some
A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age.	Is a	False	Polydactyly	Inferred relationship	Some
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital, total, cortical blindness, intellectual disability, postaxial polydactyly of the hands and feet, pre- and postnatal growth delay, psychomotor developmental retardation, and mild facial dysmorphism (including prominent forehead, short nose, long philtrum, high-arched palate, and microretrognathia). Recurrent respiratory and intestinal infections, as well as moderate hypertonia and hyperreflexia, are also associated. There have been no further descriptions in the literature since 1985.	Is a	True	Polydactyly	Inferred relationship	Some
Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.	Is a	True	Polydactyly	Inferred relationship	Some
Polydactyly-myopia syndrome is an exceedingly rare autosomal dominant developmental anomaly reported in 1986 in nine individuals among four generations of the same family. The syndrome is characterized clinically by four-limb postaxial polydactyly and progressive myopia. There have been no further descriptions in the literature since 1986.	Is a	True	Polydactyly	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, growth retardation, unilateral preaxial polydactyly, and colobomatous anomalies (including coloboma of the iris, optic nerve head, choroid, and retina). There have been no further descriptions in the literature since 1987.	Is a	False	Polydactyly	Inferred relationship	Some
A syndromic disorder with, as a major feature, the association between Dandy-Walker malformation and postaxial polydactyly. The Dandy-Walker malformation has a variable expression and is characterized by a posterior fossa cyst communicating with the fourth ventricle, the partial or complete absence of the cerebellar vermis, and facultative hydrocephalus. Postaxial polydactyly includes tetramelic postaxial polydactyly of hands and feet with possible enlargement of the fifth metacarpal and metatarsal bones, as well as bifid fifth metacarpals.	Is a	True	Polydactyly	Inferred relationship	Some
Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hyperphalangy is almost always bilateral, and patients present no more than five digits and no other skeletal anomalies.	Is a	True	Polydactyly	Inferred relationship	Some
Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognathism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.	Is a	True	Polydactyly	Inferred relationship	Some
Polysyndactyly	Is a	True	Polydactyly	Inferred relationship	Some
A rare genetic congenital limb malformation disorder with characteristics of 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.	Is a	True	Polydactyly	Inferred relationship	Some
A rare genetic developmental defect during embryogenesis syndrome with characteristics of postaxial polydactyly and other abnormalities of the hands and feet (for example brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.	Is a	True	Polydactyly	Inferred relationship	Some
Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay.	Is a	True	Polydactyly	Inferred relationship	Some
Short rib polydactyly syndrome	Is a	True	Polydactyly	Inferred relationship	Some
Radial polydactyly	Is a	True	Polydactyly	Inferred relationship	Some
Excision of radial digit and skeletal repair for polydactyly	Has focus	True	Polydactyly	Inferred relationship	Some	3
Excision of ulnar digit and skeletal repair for polydactyly (procedure)	Has focus	True	Polydactyly	Inferred relationship	Some	3
A rare genetic syndrome with limb malformations as a major feature characterized by preaxial polydactyly of the hands and feet with variable phenotypic expressivity in combination with hypertrichosis extending from the posterior hairline to the middle of the back. Reported limb malformations include triphalangeal thumbs, duplicated thumbs, preaxial extra ray, and syndactyly between digits I and II in the hands, and large or duplicated hallux and syndactyly between toes I and II in the feet.	Is a	True	Polydactyly	Inferred relationship	Some
A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies.	Is a	True	Polydactyly	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
492495019	Accessory digit	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
492497010	Supernumerary digit	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
492498017	Polydactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
776844012	Polydactyly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1892171000005115	Polydaktyli	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)