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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
    2676631000005113 kongenit abnorm sammenvoksning da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    kongenit abnorm sammenvoksning Is a kongenit anomali false Inferred relationship Some
    kongenit abnorm sammenvoksning Is a Fusion false Inferred relationship Some
    kongenit abnorm sammenvoksning Is a Kongenit malformation false Inferred relationship Some
    kongenit abnorm sammenvoksning Is a dysgenese false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    A subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders. It is a very rare disease; approximately 40 cases have been described in the literature. It is determined by acrocephaly, peculiar facies, brachydactyly and syndactyly in the hands, and preaxial polydactyly and syndactyly of the toes. Marked intrafamilial variability is possible. Inherited as an autosomal recessive trait. Associated morphology False kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning Inferred relationship Some 1
    Humeroulnar synostosis Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Fusion of mandibular incisor teeth (disorder) Associated morphology False kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning Inferred relationship Some 1
    Cleft hand with syndactyly Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 2
    Lumbarized first sacral vertebra Associated morphology False kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning Inferred relationship Some 1
    Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly. Various anomalies of the breasts and nipples, and variable involvement of the hand and forearm (some patients having normal hands) have also been reported. The absence of other muscles around the shoulder girdle is a frequent feature. The syndrome is thought to be of vascular origin, for example a result of a disruption in the blood supply in the subclavian artery. Poland syndrome is most commonly a sporadic condition, but rare familial cases have been reported, compatible with an autosomal dominant mode of inheritance. Associated morphology False kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning Inferred relationship Some 1
    Heterodymus Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Acrocephalosyndactyly type V (disorder) Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 2
    Acrocephalosyndactyly Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Low assimilation pelvis Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 4
    Osseous syndactyly of toes first web space Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Rhinocephaly Associated morphology False kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning Inferred relationship Some 1
    Radioulnar synostosis and dislocation of radial head Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Autositic twin of asymmetrical conjoined twins (disorder) Associated morphology False kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning Inferred relationship Some 1
    Monocephalus tripus dibrachius Associated morphology False kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning Inferred relationship Some 2
    Anadidymus Associated morphology False kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning Inferred relationship Some 1
    Deradelphus (disorder) Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Monocephalus tetrapus dibrachius Associated morphology False kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning Inferred relationship Some 2
    This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 5
    This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies. Associated morphology False kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning Inferred relationship Some 2
    Anakatadidymus Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Cephalothoracopagus Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Thoracodidymus Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Acrocephalopolysyndactyly type IV Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Gastrothoracopagus Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Monocephalus Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Cephalodymus Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Pygodidymus Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 3
    Katadidymus Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Omphaloangiopagus Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Syncephalus Associated morphology False kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning Inferred relationship Some 2
    Acardius Associated morphology False kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning Inferred relationship Some 2
    Pygomelus Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Acardiacus anceps Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 3
    An extremely rare genetic congenital joint formation defect disorder with characteristics of unilateral 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 oligo-ectrosyndactyly may be associated. Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 2
    An extremely rare genetic congenital joint formation defect disorder with characteristics of unilateral 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 oligo-ectrosyndactyly may be associated. Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    An extremely rare genetic congenital joint formation defect disorder with characteristics of unilateral 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 oligo-ectrosyndactyly may be associated. Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 3
    A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of 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 kongenit abnorm sammenvoksning Inferred relationship Some 1
    Tarsal coalitions of bilateral feet (disorder) Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Tarsal coalitions of bilateral feet (disorder) Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 2
    Acephaly Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 3
    Simple syndactyly of toes of right foot Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Simple syndactyly of toes of left foot (disorder) Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    A rare multiple congenital defects/dysmorphic syndrome with characteristics of variable degrees of bony syngnathia associated with variable additional abnormalities including growth retardation, intellectual disability, microcephaly, iris coloboma, nystagmus, deafness and vertebral segmentation defects. Also associated with genital, limb and additional facial malformations. Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 3
    Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 4
    A rare genetic chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 with characteristics of congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers. Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 2
    A rare genetic congenital limb malformation syndrome with characteristics of complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976. Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 2
    A rare genetic multiple congenital anomalies syndrome with characteristics of congenital heart defects (for example coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly. There is evidence the disease is caused by compound heterozygous mutation in the WDPCP gene on chromosome 2p15. Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Repair of syndactyly with skin graft (procedure) Direct morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Correction of syndactyly with skin flap and graft Direct morphology False kongenit abnorm sammenvoksning Inferred relationship Some 2
    Correction of syndactyly of fingers using skin graft Direct morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Cloverleaf skull, asphyxiating thoracic dysplasia syndrome (disorder) Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 2
    Simple syndactyly lesser toes Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Symbrachydactyly of toe (disorder) Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Imperforate hymen Associated morphology False kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning Inferred relationship Some 1
    Wildervanck syndrome Associated morphology False kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning Inferred relationship Some 1
    Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder) Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder) Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 2
    Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder) Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 3
    Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder) Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 4
    Syndactyly of toes of bilateral feet (disorder) Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Syndactyly of toes of bilateral feet (disorder) Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 2
    Bilateral humeroradial synostosis Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Bilateral humeroradial synostosis Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 2
    Bilateral humeroradial synostosis Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 3
    Bilateral humeroradial synostosis Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 4
    Bilateral syndactyly of fingers with fusion of bones Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Bilateral syndactyly of fingers with fusion of bones Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 2
    Radioulnar synostosis and dislocation of radial head Associated morphology False kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning 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 kongenit abnorm sammenvoksning Inferred relationship Some 3
    Proximal radioulnar synostosis Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 2
    Distal radioulnar synostosis Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 2
    Radioulnar synostosis Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 2
    Radioulnar synostosis of bilateral upper limbs Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 1
    Radioulnar synostosis of bilateral upper limbs Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 2
    Radioulnar synostosis of bilateral upper limbs Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 3
    Radioulnar synostosis of bilateral upper limbs Associated morphology False kongenit abnorm sammenvoksning Inferred relationship Some 4

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