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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
    Cloverleaf skull syndrome Associated morphology False Congenital abnormal fusion Inferred relationship Some 5
    Cleft hand with syndactyly Associated morphology False Congenital abnormal fusion Inferred relationship Some 5
    Acrocephalopolysyndactyly Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Fusion of mandibular incisor teeth (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Antley-Bixler syndrome Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Antley-Bixler syndrome Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Antley-Bixler syndrome Associated morphology False Congenital abnormal fusion Inferred relationship Some 7
    Antley-Bixler syndrome Associated morphology False Congenital abnormal fusion Inferred relationship Some 8
    Humeroradial synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Humeroradial synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Anadidymus Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Distal radioulnar synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Ulnar and humeroulnar synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Ulnar and humeroulnar synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 5
    Proximal radioulnar synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Humeroulnar synostosis (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Humeroulnar synostosis (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 5
    Imperfect fusion of skull Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Congenital fusion of labia Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Commissural fusion of aortic valve Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Commissural fusion of pulmonary valve Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Congenital fusion of pulmonary valve segment (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Congenital fusion of spine Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Congenital lumbosacral fusion (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Congenital partial fusion of spine with hemivertebra - unbalanced Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Constriction ring of upper limb with acrosyndactyly and amputation Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Congenital synostosis of lower limb bones Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Congenital fusion of pulmonic cusps Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Congenital partial fusion of spine - unbalanced Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Congenital fusion of ossicles of ear Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Congenital complete fusion of spine Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Congenital complete fusion of spine Associated morphology False Congenital abnormal fusion Inferred relationship Some 5
    Supernumerary fused sternebra Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Acrosyndactyly of thumb (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Naviculocuneiform bar Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Radioulnar synostosis and dislocation of radial head Associated morphology False Congenital abnormal fusion Inferred relationship Some 6
    Congenital fusion of sacroiliac joint Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Congenital fusion of sacroiliac joint Associated morphology False Congenital abnormal fusion Inferred relationship Some 6
    Congenital partial fusion of spine Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Talocalcaneal coalition Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Congenital fusion of testis Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Astragaloscaphoid synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Calcaneonavicular bar Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Congenital partial fusion of spine - balanced Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    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 5
    Lumbarized first sacral vertebra Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Congenital partial fusion of spine with hemivertebra - balanced Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Complex tarsal coalition Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Congenital fusion of ribs Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    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 6
    Imperfect fusion of skull Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Horseshoe kidney Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Assimilation pelvis Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Splenogonadal fusion Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Pygopagus Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Omphalopagus Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Congenital fusion of pulmonary valve segment (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Simple syndactyly of toes Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Osseous syndactyly lesser toes Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Lunate-triquetrum synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Capitate-hamate synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Scaphoid-lunate synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Humeroulnar synostosis (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Congenital synostosis of lower limb bones Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Congenital complete fusion of spine Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Commissural fusion of pulmonary valve Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Commissural fusion of aortic valve Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Acrosyndactyly of the fingers Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Carpal synostosis Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Brachysyndactyly of thumb Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Osseous syndactyly of toes second to fourth web Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Syndactyly of thumb (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Congenital fusion of labia Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Supernumerary fused sternebra Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    Coloboma of choroid Associated morphology False Congenital abnormal fusion Inferred relationship Some 7
    Cake kidney Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Craniopagus parietalis Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Craniopagus Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Craniopagus occipitalis Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Craniopagus frontalis Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Craniopagus parasiticus Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Splenogonadal fusion Associated morphology False Congenital abnormal fusion Inferred relationship Some 3
    Fundus coloboma Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Syndactyly of fingers type 8 (disorder) Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested. Associated morphology False Congenital abnormal fusion Inferred relationship Some 2
    A rare non-syndromic syndactyly characterized by complete or partial webbing between the 3rd and 4th fingers and/or the 2nd and 3rd toes. Other digits may be involved occasionally. The phenotype varies widely within and between families, sometimes only the hands are affected and sometimes only the feet. Webbing between fingers may be associated with bony fusion of the distal phalanges. Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    A rare non-syndromic syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers. In most cases, it is a soft tissue syndactyly, but occasionally the distal phalanges may be fused. The middle phalanx of the fifth finger is usually hypoplastic, and the feet are not affected. Associated morphology False Congenital abnormal fusion Inferred relationship Some 1
    A rare non-syndromic syndactyly characterized by a distinctive combination of syndactyly and polydactyly, generally affecting the 3rd and 4th fingers and the 4th and 5th toes, bilaterally, with partial or complete reduplication of a digital ray within the syndactylous web. Additional features include 5th finger clinodactyly, camptodactyly and/or brachydactyly. Associated morphology 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 3
    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 False Congenital abnormal fusion 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 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 5
    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 3
    A rare congenital malformation syndrome characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. There have been no further descriptions in the literature since 1971. Associated morphology False Congenital abnormal fusion Inferred relationship Some 4
    Triphalangeal thumb and polysyndactyly syndrome (disorder) Associated morphology False Congenital abnormal fusion 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 False Congenital abnormal fusion Inferred relationship Some 2
    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 False Congenital abnormal fusion Inferred relationship Some 3
    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 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 4
    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 False Congenital abnormal fusion Inferred relationship Some 2
    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

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