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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
Radioulnar synostosis and dislocation of radial head Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Radioulnar synostosis and dislocation of radial head Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 3
Osseous syndactyly lesser toes Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Fetal epignathus with conjoined twins (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 3
Jackson-Weiss syndrome Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 3
Symbrachydactyly of bilateral hands and feet (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 5
Symbrachydactyly of bilateral hands and feet (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 6
Symbrachydactyly of bilateral hands and feet (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 7
Symbrachydactyly of bilateral hands and feet (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 8
Simple syndactyly of toes of second web space of bilateral feet (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Simple syndactyly of toes of second web space of bilateral feet (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Acrocephalosyndactyly Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Synostosis of bilateral humerus and ulna (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Synostosis of bilateral humerus and ulna (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Bilateral humero-radio-ulnar synostosis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Bilateral humero-radio-ulnar synostosis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Bilateral humero-radio-ulnar synostosis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 3
Bilateral humero-radio-ulnar synostosis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 4
Bilateral humero-radio-ulnar synostosis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 5
Bilateral humero-radio-ulnar synostosis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 6
Pfeiffer syndrome type 1 (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Pfeiffer syndrome type 2 (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Pfeiffer syndrome type 3 (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Syndactyly of fingers of bilateral hands Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Syndactyly of fingers of bilateral hands Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Sternopagus (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Simple syndactyly of toes of first web space of bilateral feet Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Simple syndactyly of toes of first web space of bilateral feet Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Bilateral congenital tibiofibular synostosis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Bilateral congenital tibiofibular synostosis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Thoracoomphalopagus Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Thoracoomphalopagus Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 3
Congenital abnormal fusion of carpal bone Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
A rare genetic disease characterized by the association of Klippel-Feil anomaly (fusion of the cervical spine), myopathy, hypotonia, short stature, microcephaly, and facial dysmorphism (including low-set ears, bulbous nose, long philtrum, high-arched palate, and low posterior hairline, among others). Cardiac abnormalities and various skeletal anomalies (such as pectus excavatum or clinodactyly) have also been reported. Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Congenital abnormal fusion of left carpal bones (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital abnormal fusion of right carpal bones (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Bilateral congenital abnormal fusion of carpal bones Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Bilateral congenital abnormal fusion of carpal bones Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
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 True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital radioulnar synostosis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital radioulnar synostosis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
A rare ectodermal dysplasia syndrome characterized by hypotrichosis, tooth enamel hypoplasia, hypoplastic nails, palmoplantar keratoderma, hyperhidrosis on hands, face, and scalp, bilateral partial cutaneous syndactyly, and dysmorphic facial features with large prominent ear pinnae, pointed nose, and thin upper lips. Association of cardiomegaly has also been reported. Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 4
A rare ciliopathy with major skeletal involvement characterized by short ribs, micromelia, limb bowing, polysyndactyly, absent ossification of the radii, tibiae and fibulae, as well as the bony elements of the hands and feet, and hypoplastic scapulae. Additional hallmarks of ciliopathic disease, such as laterality defects and cystic kidneys, have also been observed. Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Syndactyly of fingers of right hand Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Syndactyly of fingers of left hand (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Syndactyly of toes of right foot (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Syndactyly of toes of left foot (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital radioulnar synostosis of left forearm (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital radioulnar synostosis of left forearm (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Congenital radioulnar synostosis of right forearm (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital radioulnar synostosis of right forearm (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Congenital bilateral radioulnar synostosis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital bilateral radioulnar synostosis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Congenital bilateral radioulnar synostosis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 3
Congenital bilateral radioulnar synostosis Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 4
A rare mesomelic and rhizo-mesomelic dysplasia with characteristics of marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due to mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital abnormal fusion of first metacarpal bone (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital abnormal fusion of first metatarsal bone (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital abnormal fusion of fourth metacarpal bone (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital abnormal fusion of fifth metacarpal bone Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital abnormal fusion of carpal and metacarpal bone Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital abnormal fusion of carpal and metacarpal bone Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Congenital synostosis of metacarpal bone with proximal phalanx of hand Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital abnormal fusion of bones of foot (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital abnormal fusion of bones of hand Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital abnormal fusion of bones of upper limb (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital abnormal fusion of second metacarpal bone (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital abnormal fusion of third metacarpal bone (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital synostosis of proximal phalanx of great toe with first metatarsal bone (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital synostosis of second metacarpal bone with trapezoid bone Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital synostosis of second metacarpal bone with trapezoid bone Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Congenital synostosis of proximal phalanx of thumb with first metacarpal bone Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital abnormal fusion of phalanx of thumb Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital synostosis of tarsal and metatarsal bone (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital abnormal fusion of phalanx of foot Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital abnormal fusion of scapula with humerus bone (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
Congenital abnormal fusion of scapula with humerus bone (disorder) Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2
Defibulation of labia minora during second stage of labor to facilitate vaginal delivery of fetus (procedure) Direct morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 1
A rare dysostosis with brachydactyly characterised by short digits predominantly on the preaxial (radial) side resulting in stub thumbs, short index fingers and a cutaneous web between the first and second fingers. No extraskeletal manifestations are present. Associated morphology True Fusion that has occurred in a structure that is not normally fused. Inferred relationship Some 2

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