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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:

    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


    0 descendants.

    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
    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 4
    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 6
    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 8
    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. Associated morphology False Congenital abnormal fusion Inferred relationship Some 6
    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 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 8
    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 9
    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. Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    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 7
    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 3
    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 3
    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 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 5
    Congenital chorioretinal coloboma of bilateral eyes (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Associated morphology False Congenital abnormal fusion Inferred relationship Some 5
    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 False Congenital abnormal fusion Inferred relationship Some 7
    Saethre-Chotzen syndrome Associated morphology False Congenital abnormal fusion 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 False Congenital abnormal fusion Inferred relationship Some 3
    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 False Congenital abnormal fusion Inferred relationship Some 4
    Acardiacus anceps Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Cryptodidymus Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Parasitic twin of asymmetrical conjoined twins (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Acardius Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Gastrothoracopagus dipygus (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Sirenomelus (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    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 False Congenital abnormal fusion Inferred relationship Some 1
    Thoracodidymus Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Monocephalus tripus dibrachius Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Syncephalus Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Katadidymus Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Heterodymus Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Cephalothoracopagus Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Deradelphus Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Monocephalus Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Cryptodidymus Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Parasitic twin of asymmetrical conjoined twins (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Anakatadidymus Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Omphaloangiopagus Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Pygomelus Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Gastrothoracopagus Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Monocephalus tetrapus dibrachius Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Thoracoparacephalus Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Pygodidymus Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Autositic twin of asymmetrical conjoined twins (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Cephalodymus Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Polysomia (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    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 False Congenital abnormal fusion Inferred relationship Some 2
    Janiceps Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    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 False Congenital abnormal fusion Inferred relationship Some 3
    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 False Congenital abnormal fusion Inferred relationship Some 2
    Janiceps Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Splenogonadal fusion Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    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 6
    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 8
    Occipitalization of atlas (disorder) 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 6
    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 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 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 False Congenital abnormal fusion Inferred relationship Some 4
    acrocéphalopolysyndactylie de type IV Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    syndrome de Summitt Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Congenital chorioretinal coloboma of left eye (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Congenital chorioretinal coloboma of right eye (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Simple syndactyly of toes of bilateral feet (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Simple syndactyly of toes of bilateral feet (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    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 False Congenital abnormal fusion Inferred relationship Some 1
    Repair of syndactyly Direct morphology False Congenital abnormal fusion Inferred relationship Some 3
    Correction of syndactyly of fingers using skin graft Direct morphology False Congenital abnormal fusion Inferred relationship Some 3
    Correction of syndactyly of fingers using skin expander (procedure) Direct morphology False Congenital abnormal fusion Inferred relationship Some 3
    Correction of complicated syndactyly Direct morphology False Congenital abnormal fusion Inferred relationship Some 3
    Correction of syndactyly with skin flap 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 1
    Repair of syndactyly with skin graft (procedure) Direct morphology False Congenital abnormal fusion Inferred relationship Some 2
    Isolated congenital syngnathia is a very rare developmental defect during embryogenesis disorder characterized by varying degrees of congenital fusion (ranging from simple mucosal adhesions to extensive bony fusion) of mandible to maxilla that is not associated with any other malformations. Patients present with mouth opening limitation (which could range from severe to minimal restriction) that typically results in feeding, swallowing and/or respiratory difficulties which may lead to failure to thrive, malnutrition and/or temporomandibular joint ankylosis. Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    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. Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    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. Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Symbrachydactyly Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Symbrachydactyly of digit of hand (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    synostose lambdoïde familiale Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    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. Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by 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. Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    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. Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Polysomia (disorder) 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 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 False Congenital abnormal fusion Inferred relationship Some 3
    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. Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    syndrome de Summitt Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Klippel-Feil sequence Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features. Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Constriction ring of upper limb with acrosyndactyly and amputation Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Saethre-Chotzen syndrome Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Simple syndactyly of toes second to fourth web Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Simple syndactyly of toes of bilateral feet (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Acrocephalosyndactyly type I Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    High assimilation pelvis Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Antley-Bixler syndrome Associated morphology False Congenital abnormal fusion Inferred relationship Some 5
    Antley-Bixler syndrome Associated morphology False Congenital abnormal fusion Inferred relationship Some 6
    Thoracoparacephalus Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    A very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects. Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Gastrothoracopagus dipygus (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    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

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