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8447006: Congenital anomaly of skeletal bone (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
14942016 Congenital anomaly of skeletal bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
14945019 Congenital skeletal anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
14946018 Anomaly of skeletal development en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
826321016 Congenital anomaly of skeletal bone (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3006510017 Congenital malformation of skeletal bone en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
355741000195115 anomalia scheletrica congenita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
355751000195117 anomalia ossea congenita it Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4416831000241116 anomalie congénitale d'un os fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
11451001000113 Angeborene Skelettanomalie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
11461001000110 Angeborene Knochenanomalie de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2148 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of skeletal bone Is a Congenital anomaly of musculoskeletal system true Inferred relationship Some
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Some
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Some 1
Congenital anomaly of skeletal bone Is a Disorder of bone (disorder) false Inferred relationship Some
Congenital anomaly of skeletal bone Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of skeletal bone Is a Congenital connective tissue disorder false Inferred relationship Some
Congenital anomaly of skeletal bone Is a Disorder of bone development (disorder) true Inferred relationship Some
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Some 1
Congenital anomaly of skeletal bone Associated morphology anomalie congénitale false Inferred relationship Some 1
Congenital anomaly of skeletal bone Occurrence Congenital false Inferred relationship Some 2
Congenital anomaly of skeletal bone Associated morphology anomalie du développement false Inferred relationship Some 2
Congenital anomaly of skeletal bone Finding site Bone structure false Inferred relationship Some 2
Congenital anomaly of skeletal bone Occurrence Congenital true Inferred relationship Some 1
Congenital anomaly of skeletal bone Finding site Bone structure true Inferred relationship Some 1
Congenital anomaly of skeletal bone Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Congenital anomaly of skeletal bone Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital lordosis deformity of spine due to congenital malformation of skeletal bone (disorder) Due to True Congenital anomaly of skeletal bone Inferred relationship Some 2
A rare, primary bone dysplasia characterised by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
A rare genetic neurological disorder characterized by pediatric onset of calcifying leukoencephalopathy and skeletal dysplasia. Reported structural brain abnormalities include agenesis of corpus callosum, ventriculomegaly, congenital hydrocephalus, pontocerebellar hypoplasia, periventricular calcifications, Dandy-Walker malformation and absence of microglia. Characteristic skeletal features include increased bone mineral density (reported in skull, pelvic bone and vertebrae), platyspondyly, and under-modeling of tubular bones with widened/radiolucent metaphysis and constricted/sclerotic diaphysis. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate. Is a False Congenital anomaly of skeletal bone Inferred relationship Some
A rare autosomal recessive microcephalic primordial dwarfism characterized by congenital microcephaly and craniofacial features associated with a spectrum of limb abnormalities ranging from mild to severe. Short stature is frequently observed and often is severe. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability, and sensorineural hearing loss, among others. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Rhizomelic dysplasia is proximal shortening of the limb. In the upper limb this is shortening of the humerus and in the lower limb the femur. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Mesomelic dysplasia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Familial articular hypermobility syndrome (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital bowing of long bone (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital malformation of bone of thorax (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
A rare syndromic intellectual disability characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital spondylolysis (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal bullet shape of phalanx of foot (disorder) Is a False Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal bullet shape of phalanx of hand (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal cone shape of epiphysis of phalanx of hand (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal cone shape of epiphysis with epiphyseal arrest (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal cone shape of epiphysis of phalanx of toe (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal rhomboid shape of distal phalanx of little finger (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal rhomboid shape of middle phalanx of little finger (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal slender shape of long bone (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal rhomboid shape of proximal phalanx of little finger (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal triangular shape of epiphysis Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal triangular shape of phalanx of hand (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal triangular shape of phalanx of toe Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital clinodactyly of distal phalanx of little finger (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal fusion of bones of upper limb (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital abnormal broad shape of phalanx (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital hypoplasia of bone of extremity (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital dolichostenomelia Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital hypoplasia of vertebra (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
A rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops. Cortical thickening throughout the skeleton, particularly in the long bones and ribs, brachycephaly, severe brachydactyly and craniofacial abnormalities are reported. Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Abnormally short long bone (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Abnormal tapering of phalanx of foot (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Abnormal tapering of phalanx of finger (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some
Congenital dysplasia of spine (disorder) Is a True Congenital anomaly of skeletal bone Inferred relationship Some

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