373413006: Syndactyly (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)

\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)
\Disease\Disorder of limb (disorder)\Disorder of digit\Congenital anomaly of digit (disorder)\Syndactyly (disorder)
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit (disorder)\Syndactyly (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2005. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Syndactyly (disorder)	Is a	Congenital bony fusion of phalanges (disorder)	false	Inferred relationship	Some
Syndactyly (disorder)	Associated morphology	Congenital webbing	false	Inferred relationship	Some	1
Syndactyly (disorder)	Finding site	Digit structure	false	Inferred relationship	Some	1
Syndactyly (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Syndactyly (disorder)	Is a	Perodactylia	false	Inferred relationship	Some
Syndactyly (disorder)	Finding site	Digit structure	false	Inferred relationship	Some	1
Syndactyly (disorder)	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	1
Syndactyly (disorder)	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	1
Syndactyly (disorder)	Finding site	Digit structure	true	Inferred relationship	Some	1
Syndactyly (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Syndactyly (disorder)	Is a	Congenital anomaly of digit (disorder)	true	Inferred relationship	Some
Syndactyly (disorder)	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	2
Syndactyly (disorder)	Finding site	Digit structure	false	Inferred relationship	Some	2
Syndactyly (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Syndactyly (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Syndactyly (disorder)	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
symbrachydactylie	Is a	False	Syndactyly (disorder)	Inferred relationship	Some
Syndactyly of toes	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
Syndactyly of fingers	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
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.	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
Apert's syndrome	Is a	False	Syndactyly (disorder)	Inferred relationship	Some
Acrocephalosyndactyly type V (disorder)	Is a	False	Syndactyly (disorder)	Inferred relationship	Some
Polysyndactyly	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
Syndactyly of multiple digits, unspecified	Is a	False	Syndactyly (disorder)	Inferred relationship	Some
Syndactyly NOS	Is a	False	Syndactyly (disorder)	Inferred relationship	Some
Syndactyly of thumb (disorder)	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
Congenital ankylodactyly	Is a	False	Syndactyly (disorder)	Inferred relationship	Some
Congenital bony fusion of phalanges (disorder)	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
Acrocephalosyndactyly type I	Is a	False	Syndactyly (disorder)	Inferred relationship	Some
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.	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
Acrosyndactyly of the fingers	Is a	False	Syndactyly (disorder)	Inferred relationship	Some
Acrocephalosyndactyly	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
Cleft hand with syndactyly	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
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.	Is a	True	Syndactyly (disorder)	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	Syndactyly (disorder)	Inferred relationship	Some
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.	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
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.	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
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.	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive.	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
Symphalangism	Is a	False	Syndactyly (disorder)	Inferred relationship	Some
A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996.	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
A rare non-syndromic syndactyly characterized by mesoaxial reduction of fingers, complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, malformed thumbs, and hypoplasia and clinodactyly of the 5th finger. Preaxial webbing of toes with terminal phalangeal hypoplasia of all toes has been reported in association.	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
A rare non-syndromic syndactyly characterized by unilateral fusion of 2nd to 5th fingers, amalgamation of distal phalanges in a knot-like structure, and fusion of the 2nd and 3rd toe. Some individuals present only with webbing between the 2nd and 3rd toes, without involvement of fingers.	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
Craniodigital syndrome - intellectual deficit is characterized by syndactyly of the fingers and toes, characteristic facies (startled facial expression with a small, pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
Symbrachydactyly	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported.	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
Correction of complicated syndactyly	Has focus	True	Syndactyly (disorder)	Inferred relationship	Some	2
Correction of syndactyly of fingers using skin expander (procedure)	Has focus	True	Syndactyly (disorder)	Inferred relationship	Some	2
Repair of syndactyly	Has focus	True	Syndactyly (disorder)	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. Researchers have identified two forms of Timothy syndrome. Type 1, which is also known as the classic type, includes all of the characteristic features described above. Type 2, or the atypical type, causes a more severe form of long QT syndrome and a greater risk of arrhythmia and sudden death. Unlike the classic type, the atypical type does not appear to cause webbing of the fingers or toes.	Is a	False	Syndactyly (disorder)	Inferred relationship	Some
Craniosynostosis, Philadelphia type is a form of syndromic craniosynostosis, characterized by sagittal/dolichocephalic head shape with a relatively normal facial appearance and complete soft tissue syndactyly of hand and foot. Transmission is autosomal dominant with variable expression of the hand findings, and incomplete penetrance of the sagittal craniosynostosis. Craniosynostosis, Philadelphia type has been suggested to share the same etiology as syndactyly type 1A.	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported.	Is a	True	Syndactyly (disorder)	Inferred relationship	Some
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures.	Is a	True	Syndactyly (disorder)	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1198711011	Syndactyly (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1211892014	Syndactyly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1229235016	Syndactylus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1229236015	Congenital webbing of digits	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1229237012	Syndactylia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1229238019	Syndactylism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1813141000195114	sindattilia	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5239801000241116	syndactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module