1297033003: Abnormally fused structure (morphologic abnormality)

SNOMED CT Concept\Body structure (body structure)\Morphologically altered structure\Morphologically abnormal structure\Lesion (morphologic abnormality)\Fusion\Fusion that has occurred in a structure that is not normally fused.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Feb 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5296154017 Fusion that has occurred in a structure that is not normally fused. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5289332010 Abnormally fused structure (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5296153011 Abnormally fused structure en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Fusion that has occurred in a structure that is not normally fused.	Is a	Fusion	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	3
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.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Ischiopagus (disorder)	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Ischiopagus (disorder)	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Splenogonadal fusion	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Splenogonadal fusion	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Pygopagus	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Pygopagus	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Omphalopagus	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Omphalopagus	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
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.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	4
Polysomia (disorder)	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
A rare syndrome characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
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.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
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.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Occipitalization of atlas (disorder)	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
A rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	3
Eyebrow duplication-syndactyly syndrome is characterized by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Eyebrow duplication-syndactyly syndrome is characterized by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
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.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Syndactyly of fingers type 8 (disorder)	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
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.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	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.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
A rare non-syndromic syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The middle phalanx of the fifth finger is usually hypoplastic, and the feet are not affected.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Correction of syndactyly of fingers using skin graft	Direct morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Correction of syndactyly of fingers using skin expander (procedure)	Direct morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Correction of syndactyly with skin flap	Direct morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Repair of syndactyly with skin graft (procedure)	Direct morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Polysyndactyly	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
acrocéphalopolysyndactylie de type IV	Associated morphology	False	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
syndrome de Summitt	Associated morphology	False	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Condition with either the sacralization of the lowest lumbar segment or the lumbarization of the most superior sacral segment of the spine.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Simple syndactyly of toes of bilateral feet (disorder)	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Simple syndactyly of toes of bilateral feet (disorder)	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Symbrachydactyly of toe (disorder)	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Congenital fusion of pulmonic cusps	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Fused tricuspid papillary muscle (disorder)	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Fused mitral papillary muscles	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Commissural fusion of truncal valve (disorder)	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Congenital fusion of spine	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Symbrachydactyly	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Astragaloscaphoid synostosis	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Supernumerary fused sternebra	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Naviculocuneiform bar	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Congenital synostosis of lower limb bones	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Congenital complete fusion of spine	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Commissural fusion of pulmonary valve	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Commissural fusion of aortic valve	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Congenital lumbosacral fusion (disorder)	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Congenital bony fusion of phalanges (disorder)	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Simple syndactyly of fingers - first web	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Simple syndactyly of fingers - first web	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Simple syndactyly of fingers - second to fourth web	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Simple syndactyly of fingers - second to fourth web	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Simple syndactyly of fingers - second to fourth web	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	3
Simple syndactyly of fingers - second to fourth web	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	4
Cleft hand with syndactyly	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Simple syndactyly of toes of left foot (disorder)	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Simple syndactyly of toes of right foot	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Tarsal coalitions of bilateral feet (disorder)	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Tarsal coalitions of bilateral feet (disorder)	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Radioulnar synostosis of bilateral upper limbs	Associated morphology	False	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Radioulnar synostosis of bilateral upper limbs	Associated morphology	False	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Radioulnar synostosis of bilateral upper limbs	Associated morphology	False	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	3
Radioulnar synostosis of bilateral upper limbs	Associated morphology	False	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	4
A rare multiple congenital defects/dysmorphic syndrome characterized by variable degrees of bony syngnathia associated with variable additional abnormalities, including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness, and vertebral segmentation defects, as well as genital, limb and additional facial malformations, among others.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
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.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
A rare, genetic, congenital limb malformation syndrome characterized by 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.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Correction of syndactyly with skin flap and graft	Direct morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Correction of syndactyly with skin flap and graft	Direct morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Cranial duplication	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Antley-Bixler syndrome	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	5
Antley-Bixler syndrome	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	6
Syndactyly of toes of bilateral feet (disorder)	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Syndactyly of toes of bilateral feet (disorder)	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Bilateral humeroradial synostosis	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Bilateral humeroradial synostosis	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Bilateral humeroradial synostosis	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	3
Bilateral humeroradial synostosis	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	4
Bilateral syndactyly of fingers with fusion of bones	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Bilateral syndactyly of fingers with fusion of bones	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Simple syndactyly of fingers	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Capitate-hamate synostosis	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Capitate-hamate synostosis	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Scaphoid-lunate synostosis	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Scaphoid-lunate synostosis	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Humeroradial synostosis	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Humeroradial synostosis	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Humeroulnar synostosis (disorder)	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Humeroulnar synostosis (disorder)	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1
Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	2
Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated.	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	3
Radioulnar synostosis and dislocation of radial head	Associated morphology	True	Fusion that has occurred in a structure that is not normally fused.	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
5296154017	Fusion that has occurred in a structure that is not normally fused.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5289332010	Abnormally fused structure (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5296153011	Abnormally fused structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core