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1297033003: Abnormally fused structure (morphologic abnormality)

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

3 descendants. Search Descendants:

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
Syncephalus Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Katadidymus Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Thoracodidymus Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
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
Monocephalus tripus dibrachius Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Acardiacus anceps Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 3
Talocalcaneal coalition Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
derodidymis Associated morphology False Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Congenital fusion of pulmonary valve segment (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Osseous syndactyly of fingers - first web Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Osseous syndactyly of fingers - first web Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Osseous 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 toes, first web space Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Osseous syndactyly of toes first web space Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Acrocephalosyndactyly type I Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Acrocephalopolysyndactyly Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Complex tarsal coalition Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital partial fusion of spine - balanced Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital partial fusion of spine - unbalanced Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital partial fusion of spine with hemivertebra - balanced Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital partial fusion of spine with hemivertebra - unbalanced Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Craniopagus frontalis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Craniopagus parasiticus Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Correction of complicated syndactyly Direct morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital partial fusion of spine Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Cake kidney Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Acrosyndactyly of thumb (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Acrosyndactyly of the fingers Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Simple syndactyly of toes second to fourth web Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital fusion of labia Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
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 True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Imperfect fusion of skull Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Tarsal coalitions Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Fusion of kidneys (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Fused common atrioventricular valve papillary muscle Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Repair of syndactyly Direct morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Syndactyly of toes with fusion of bones (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Brachysyndactyly of thumb Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Syndactyly of thumb (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
brevicollis congénital Associated morphology False Fusion that has occurred in a structure that is not normally fused. 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 True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Acrocephalopolysyndactyly type III (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Syndactyly (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital abnormal fusion of rib cartilage Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Constriction ring of upper limb with acrosyndactyly and amputation Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Syndactyly of toes with fusion of bones 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 with fusion of bones 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
Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 3
Syndactyly of toes with fusion of bones of toes of bilateral feet (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 4
Thoracopagus with separate hearts and pericardial sacs Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Thoracopagus with separate hearts and common pericardial sac Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Thoracopagus with conjoined atria Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Thoracopagus with conjoined atria and ventricles (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Rachipagus (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Parapagus (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Dithoracic parapagus Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Dicephalic parapagus Associated morphology True Fusion that has occurred in a structure that is not normally fused. 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. Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Conjoined twins Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Low assimilation pelvis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Low assimilation pelvis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
High assimilation pelvis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
High assimilation pelvis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Simple syndactyly of toes Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Lunate-triquetrum synostosis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Lunate-triquetrum synostosis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
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 True Fusion that has occurred in a structure that is not normally fused. 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 True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 3
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 True Fusion that has occurred in a structure that is not normally fused. 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 True Fusion that has occurred in a structure that is not normally fused. 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 True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Symbrachydactyly of digit of hand (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
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 True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
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 True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Lumbarized first sacral vertebra Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Fusion of lobes of lung Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Simple syndactyly lesser toes Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Synchilia (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Craniopagus Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Craniopagus occipitalis Associated morphology True Fusion that has occurred in a structure that is not normally fused. 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 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 bilateral cutaneous fusion of all fingers, frequently associated with polydactyly (usually involving six digits and six metacarpals). Phalanges may fuse as a conglomerate mass of bones. Feet are occasionally affected. 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 soft tissue syndactyly of the 3rd and 4th fingers and the 2nd and 3rd toes associated with metacarpal and metatarsal fusion of the 4th and 5th digits. Shortening of fused metacarpals, ulnar deviation of fingers, interdigital cleft, camptodactyly, short distal phalanges, and absent distal interphalangeal creases have also been reported. Associated morphology True Fusion that has occurred in a structure that is not normally fused. 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 True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
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 True Fusion that has occurred in a structure that is not normally fused. 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 True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Triphalangeal thumb and polysyndactyly syndrome (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
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 True Fusion that has occurred in a structure that is not normally fused. 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 True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Brachydactyly-syndactyly, Zhao type is a recently described syndrome associating a brachydactyly type A4 (short middle phalanges of the 2nd and 5th fingers and absence of middle phalanges of the 2nd to 5th toes) and a syndactyly of the 2nd and 3rd toes. Metacarpals and metatarsals anomalies are common. Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs. Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
A polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Associated morphology True Fusion that has occurred in a structure that is not normally fused. 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 True Fusion that has occurred in a structure that is not normally fused. 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 True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 5
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 True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
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 True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
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 True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 4
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 True Fusion that has occurred in a structure that is not normally fused. 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 True Fusion that has occurred in a structure that is not normally fused. 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 True Fusion that has occurred in a structure that is not normally fused. 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 True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 3

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