37764001: Congenital abnormal fusion (morphologic abnormality)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital abnormal fusion	Is a	anomalie congénitale	false	Inferred relationship	Some
Congenital abnormal fusion	Is a	Fusion	false	Inferred relationship	Some
Congenital abnormal fusion	Is a	Congenital malformation	false	Inferred relationship	Some
Congenital abnormal fusion	Is a	anomalie du développement	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A rare syndromic craniosynostosis with variable phenotypic expression characterized by craniosynostosis, intellectual disability, distinctive facies, abnormalities of the fingers and toes (brachydactyly, polydactyly and syndactyly), short stature, congenital heart disease, skeletal defects, obesity, genital abnormalities and umbilical hernia.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Humeroulnar synostosis (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Fusion of mandibular incisor teeth (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
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	False	Congenital abnormal fusion	Inferred relationship	Some	1
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.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Cleft hand with syndactyly	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	2
Lumbarized first sacral vertebra	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	2
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	False	Congenital abnormal fusion	Inferred relationship	Some	1
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.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	2
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	False	Congenital abnormal fusion	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.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Heterodymus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Acrocephalosyndactyly type V (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	2
Acrocephalosyndactyly	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Low assimilation pelvis	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	4
Osseous syndactyly of toes first web space	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Rhinocephaly	Associated morphology	False	Congenital abnormal fusion	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	False	Congenital abnormal fusion	Inferred relationship	Some	2
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	False	Congenital abnormal fusion	Inferred relationship	Some	1
Radioulnar synostosis and dislocation of radial head	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Autositic twin of asymmetrical conjoined twins (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Monocephalus tripus dibrachius	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
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.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	2
Anadidymus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Deradelphus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Monocephalus tetrapus dibrachius	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
A rare syndrome characterized by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	2
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	5
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.	Associated morphology	False	Congenital abnormal fusion	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	False	Congenital abnormal fusion	Inferred relationship	Some	2
Anakatadidymus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Cephalothoracopagus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Thoracodidymus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
acrocéphalopolysyndactylie de type IV	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Gastrothoracopagus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Monocephalus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Cephalodymus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Pygodidymus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	3
Katadidymus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Omphaloangiopagus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Syncephalus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	2
Acardius	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	3
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	False	Congenital abnormal fusion	Inferred relationship	Some	2
Pygomelus	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Acardiacus anceps	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	3
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	False	Congenital abnormal fusion	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	False	Congenital abnormal fusion	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	False	Congenital abnormal fusion	Inferred relationship	Some	3
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.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Tarsal coalitions of bilateral feet (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Tarsal coalitions of bilateral feet (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	2
Acephaly	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	3
Simple syndactyly of toes of right foot	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Simple syndactyly of toes of left foot (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
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	False	Congenital abnormal fusion	Inferred relationship	Some	1
A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	3
A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	4
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	False	Congenital abnormal fusion	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	False	Congenital abnormal fusion	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	False	Congenital abnormal fusion	Inferred relationship	Some	1
Repair of syndactyly with skin graft (procedure)	Direct morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Correction of syndactyly with skin flap and graft	Direct morphology	False	Congenital abnormal fusion	Inferred relationship	Some	2
Correction of syndactyly of fingers using skin graft	Direct morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
A rare syndromic craniosynostosis characterized by prenatal presentation with cloverleaf skull, micromelia and asphyxiating thoracic dysplasia. Radiologic features include short ribs, horizontal roof of the acetabulum with a rounded median prominence and lateral spurs, deformed long bones with broad metaphyses, and absent ossification of the terminal phalanges. There have been no further descriptions in the literature since 1987.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	2
Simple syndactyly lesser toes	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Symbrachydactyly of toe (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Imperforate hymen	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
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.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Wildervanck syndrome	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	2
A congenital differentiation of the fifth lumbar vertebra (L5) such that it takes on characteristics of a sacral vertebra. Though the sacralization is usually incomplete and limited to one side, it can be partial or complete on one or both sides of the sacrum	Associated morphology	False	Congenital abnormal fusion	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	False	Congenital abnormal fusion	Inferred relationship	Some	1
Stapes fixation (stapediovestibular ankylosis) is a hearing loss condition that appears as a consequence of annular ligament destruction followed by excessive connective tissue production during the healing process. This condition is mainly observed in otosclerosis but is also found in chronic otitis media with tympanosclerosis, and other rare bone diseases such as Paget's disease and osteogenesis imperfecta (Lobstein disease).	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	2
Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	3
Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	4
Syndactyly of toes of bilateral feet (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Syndactyly of toes of bilateral feet (disorder)	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	2
Bilateral humeroradial synostosis	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Bilateral humeroradial synostosis	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	2
Bilateral humeroradial synostosis	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	3
Bilateral humeroradial synostosis	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	4
Bilateral syndactyly of fingers with fusion of bones	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Bilateral syndactyly of fingers with fusion of bones	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	2
Radioulnar synostosis and dislocation of radial head	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	3
Radioulnar synostosis-microcephaly-scoliosis syndrome, also known as Guiffré-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	3
A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	5
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome is characterized by the association of proximal fusion of the radius and ulna with congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	3
Proximal radioulnar synostosis	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	2
Distal radioulnar synostosis	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	2
Radioulnar synostosis	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	2
Radioulnar synostosis of bilateral upper limbs	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	1
Radioulnar synostosis of bilateral upper limbs	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	2
Radioulnar synostosis of bilateral upper limbs	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	3
Radioulnar synostosis of bilateral upper limbs	Associated morphology	False	Congenital abnormal fusion	Inferred relationship	Some	4

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Id	Description	Lang	Type	Status	Case?	Module
62997012	Congenital abnormal fusion	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
63002015	Congenitally fused structure	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
63003013	Congenital failure of segmentation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
63004019	Congenital failure of cleavage	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
769668015	Congenital abnormal fusion (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core