84598000: Polysyndactyly (disorder)

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

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

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

\Syndactyly (disorder)\Polysyndactyly

\Polydactyly\Polysyndactyly

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

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

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

140262019 Polysyndactyly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

826474013 Polysyndactyly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1876201000005114 Polysyndaktyli 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
Polysyndactyly	Is a	Symphalangy	false	Inferred relationship	Some
Polysyndactyly	Associated morphology	Congenital webbing	false	Inferred relationship	Some	1
Polysyndactyly	Finding site	Digit structure	false	Inferred relationship	Some	1
Polysyndactyly	Associated morphology	dysgenese	false	Inferred relationship	Some
Polysyndactyly	Finding site	Musculoskeletal system structure of digit (body structure)	false	Inferred relationship	Some	1
Polysyndactyly	Occurrence	Congenital	false	Inferred relationship	Some
Polysyndactyly	Is a	Syndactyly (disorder)	true	Inferred relationship	Some
Polysyndactyly	Finding site	Digit structure	false	Inferred relationship	Some	1
Polysyndactyly	Associated morphology	kongenit abnorm sammenvoksning	false	Inferred relationship	Some	1
Polysyndactyly	Associated morphology	kongenit abnorm sammenvoksning	false	Inferred relationship	Some	1
Polysyndactyly	Finding site	Digit structure	true	Inferred relationship	Some	1
Polysyndactyly	Occurrence	Congenital	true	Inferred relationship	Some	2
Polysyndactyly	Associated morphology	kongenit abnorm sammenvoksning	false	Inferred relationship	Some	2
Polysyndactyly	Finding site	Digit structure	true	Inferred relationship	Some	2
Polysyndactyly	Occurrence	Congenital	true	Inferred relationship	Some	1
Polysyndactyly	Is a	Polydactyly	true	Inferred relationship	Some
Polysyndactyly	Associated morphology	Supernumerary structure	false	Inferred relationship	Some	1
Polysyndactyly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Polysyndactyly	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Polysyndactyly	Associated morphology	Supernumerary structure	true	Inferred relationship	Some	2
Polysyndactyly	Associated morphology	Fusion that has occurred in a structure that is not normally fused.	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Polysyndaktylisyndrom	Is a	False	Polysyndactyly	Inferred relationship	Some
A rare, life-threatening developmental defect during embryogenesis characterized by polysyndactyly of fingers and toes as well as complex congenital heart defects (e.g. atrioventricular septal defects, aortic dextroposition, single ventricle, hypo- or hypertrophy of one side of the heart). Additional features may include dysmorphic traits (large fontanel, high forehead, ptosis, hypertelorism, epicanthus, low-set malformed ears, prominent root of the nose, bulbous nose, anteverted nares, long and smooth philtrum, thin upper lip, micrognathism, hirsutism, single transverse crease) nail hypoplasia, phalange agenesis/hypoplasia, flexion contractures, polysplenia, multiple hepatic/renal cysts, atrophic biliary vesicle, ductal plate malformation and genital anomalies (e.g. micropenis, undescended testes, hypoplastic scrotum). The syndrome is usually fatal in utero or in infancy, but survival cases have been reported.	Is a	True	Polysyndactyly	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	True	Polysyndactyly	Inferred relationship	Some
A rare, hereditary, congenital limb malformation characterized by polydactyly with crossed involvement of hands and feet with no other associated malformations or anomalies. Patients present with a combination of unilateral or bilateral preaxial polydactyly of hands with postaxial polydactyly of feet or postaxial polydactyly of hands with preaxial polydactyly of feet. Additional manifestations include bilateral cutaneous syndactyly of first, second and third toes and occasionally cutaneous syndactyly of hands.	Is a	True	Polysyndactyly	Inferred relationship	Some
A rare genetic congenital limb malformation disorder with characteristics of bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.	Is a	True	Polysyndactyly	Inferred relationship	Some
A rare genetic congenital limb malformation syndrome with characteristics of complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.	Is a	True	Polysyndactyly	Inferred relationship	Some
A rare genetic multiple congenital anomalies syndrome with characteristics of congenital heart defects (for example coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. There is evidence the disease is caused by compound heterozygous mutation in the WDPCP gene on chromosome 2p15.	Is a	True	Polysyndactyly	Inferred relationship	Some
Triphalangeal thumb and polysyndactyly syndrome (disorder)	Is a	True	Polysyndactyly	Inferred relationship	Some
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.	Is a	True	Polysyndactyly	Inferred relationship	Some
Acrocephalopolysyndactyly	Is a	True	Polysyndactyly	Inferred relationship	Some
Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.	Is a	True	Polysyndactyly	Inferred relationship	Some
A rare ciliopathy with major skeletal involvement characterized by short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet, and hypoplastic scapulae. Additional hallmarks of ciliopathic disease, such as laterality defects and cystic kidneys, have also been observed.	Is a	True	Polysyndactyly	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
140262019	Polysyndactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
826474013	Polysyndactyly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1876201000005114	Polysyndaktyli	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)