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312681000: Bone density scan (procedure)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Oct 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
456435014 Bone density scan en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
709378019 Bone density scan (procedure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1033561000241114 ostéodensitométrie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1033581000241116 densitométrie osseuse fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Bone density scan Is a Miscellaneous imaging procedures false Inferred relationship Some
Bone density scan Has intent Diagnostic intent (qualifier value) false Inferred relationship Some
Bone density scan Method Imaging - action false Inferred relationship Some 1
Bone density scan Method Investigation - action false Inferred relationship Some
Bone density scan Is a Imaging (procedure) false Inferred relationship Some
Bone density scan Is a An observation, by some objective method, of amount, number, quantity, size, level, extent, or magnitude, resulting in an ordinal or quantitative value true Inferred relationship Some
Bone density scan Is a Procedure on bone (organ) true Inferred relationship Some
Bone density scan Is a Imaging of skeletal system true Inferred relationship Some
Bone density scan Method Measurement - action true Inferred relationship Some 1
Bone density scan Procedure site - Direct (attribute) Bone structure true Inferred relationship Some 1
Bone density scan This attribute is used to specify the type of inherent quality, function, disposition or process characteristic that is being observed or measured. Its values are abstract types of quality (length, odor, concentration) or abstract types of process characteristic (rate, speed, duration), and do not include qualities that are located (length of arm, odor of urine), or given a value (elevated concentration). Density true Inferred relationship Some 1
Bone density scan Method Imaging - action true Inferred relationship Some 2
Bone density scan Procedure site - Direct (attribute) Bone structure true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Bone densimetry abnormal Interprets False Bone density scan Inferred relationship Some 1
Bone densimetry normal Interprets False Bone density scan Inferred relationship Some 1
Bone densimetry abnormal Interprets True Bone density scan Inferred relationship Some 1
Bone densimetry normal Interprets True Bone density scan Inferred relationship Some 1
Bone density below reference range Interprets True Bone density scan Inferred relationship Some 2
Bone density above reference range (finding) Interprets True Bone density scan Inferred relationship Some 2
Bone density screening not done (situation) Associated procedure True Bone density scan Inferred relationship Some 1
Bone density scan declined (situation) Associated procedure True Bone density scan Inferred relationship Some 1
Frontometaphyseal dysplasia Interprets True Bone density scan Inferred relationship Some 2
Hyperphosphatasemia with bone disease Interprets True Bone density scan Inferred relationship Some 3
Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. Interprets True Bone density scan Inferred relationship Some 3
Oculodento-osseous dysplasia - mild type (disorder) Interprets True Bone density scan Inferred relationship Some 3
Pachydermoperiostosis - familial Interprets True Bone density scan Inferred relationship Some 2
Osteopathia striata Interprets True Bone density scan Inferred relationship Some 2
A rare syndrome characterized by sparse hair, osteopenia, intellectual disability, minor facial abnormalities, joint laxity and hypotonia. There have been no further descriptions in the literature since 1992. Interprets True Bone density scan Inferred relationship Some 4
Juvenile idiopathic generalised osteoporosis Interprets False Bone density scan Inferred relationship Some 2
Metaphyseal dysplasia, Braun-Tinschert type is characterized by metaphyseal undermodeling with broadening of the long bones and femora with an Erlenmeyer flask appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions. Interprets True Bone density scan Inferred relationship Some 2
Craniometaphyseal dysplasia - severe type Interprets True Bone density scan Inferred relationship Some 1
A rare genetic disease characterized by sclerosing dysplasia affecting the diaphyseal and metaphyseal regions of the long bones, as well as the skull and metacarpals, in association with skin changes like those seen in ichthyosis vulgaris and premature ovarian failure with bilateral hypoplasia of the ovaries. Patients present in adulthood, primarily with swelling of the extremities and occasional mild pain in the legs. Interprets True Bone density scan Inferred relationship Some 6
Pyle metaphyseal dysplasia Interprets True Bone density scan Inferred relationship Some 2
Craniometaphyseal dysplasia - mild type Interprets True Bone density scan Inferred relationship Some 1
Spondyloocular syndrome (disorder) Interprets True Bone density scan Inferred relationship Some 2
Dysplasia with increased bone density Interprets True Bone density scan Inferred relationship Some 2
hyperostose corticale dysplasique Interprets False Bone density scan Inferred relationship Some 2
Dysplasia with decreased bone density Interprets True Bone density scan Inferred relationship Some 2
Dacryocystitis and osteopoikilosis syndrome (disorder) Interprets True Bone density scan Inferred relationship Some 3
A rare, genetic, primary bone dysplasia with decreased bone density disorder characterized by childhood-onset osteoporosis associated with recurrent, multiple, osteoporotic, long bone fractures and/or vertebral compression fractures, significant height loss in adulthood, low bone mineral density scores, and otherwise no other abnormalities. Heterozygote females may be unaffected or have a milder phenotype. Interprets True Bone density scan Inferred relationship Some 2
Mixed sclerosing bone dysplasia (disorder) Interprets True Bone density scan Inferred relationship Some 2
Oculodento-osseous dysplasia Interprets True Bone density scan Inferred relationship Some 3
Craniodiaphyseal dysplasia Interprets True Bone density scan Inferred relationship Some 2
Osteopathia striata with cranial sclerosis Interprets True Bone density scan Inferred relationship Some 2
Cranio-osteoarthropathy (COA) is a form of primary hypertrophic osteoarthropathy characterized by delayed closure of the cranial sutures and fontanels, digital clubbing, arthropathy, and periostosis. Interprets True Bone density scan Inferred relationship Some 2
Melorheostosis Interprets True Bone density scan Inferred relationship Some 3
A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by benign, isolated, calvarial thickening, presenting with prominent frontoparietal bones, a high forehead with ridging of the metopic and sagittal sutures, lateral frontal prominences, and facial dysmorphism comprising a flat nasal root and short, upturned nose. Increased intracranial pressure and cranial nerve entrapment are not associated. There have been no further descriptions in the literature since 1986. Interprets True Bone density scan Inferred relationship Some 2
A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia. Interprets True Bone density scan Inferred relationship Some 3
Oculodento-osseous dysplasia - severe type Interprets True Bone density scan Inferred relationship Some 3
A rare skeletal disorder characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999. Interprets True Bone density scan Inferred relationship Some 3
Singleton-Merten syndrome Interprets True Bone density scan Inferred relationship Some 2
Osteosclerosis - Stanescu type Interprets True Bone density scan Inferred relationship Some 3
Craniometaphyseal dysplasia Interprets True Bone density scan Inferred relationship Some 3
Osteopoikilosis Interprets True Bone density scan Inferred relationship Some 2
12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. Interprets True Bone density scan Inferred relationship Some 4
Menkes kinky-hair syndrome Interprets True Bone density scan Inferred relationship Some 3
Dysosteosclerosis Interprets True Bone density scan Inferred relationship Some 2
Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986. Interprets True Bone density scan Inferred relationship Some 2
Infantile cortical hyperostosis (disorder) Interprets True Bone density scan Inferred relationship Some 3
A rare genetic disease characterized by congenital oculocutaneous hypopigmentation, visual impairment, generalized osteoporosis with skeletal anomalies such as short stature, short neck and trunk, kyphosis, scoliosis, and platyspondyly, and dysmorphic facial features (including long philtrum, small mouth, micrognathia, and prominent ears). Moderate joint hyperelasticity and muscular hypotrophy have also been reported. Interprets True Bone density scan Inferred relationship Some 4
A rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in utero growth restriction, congenital hip dislocation and joint hyperlaxity, wrinkling of the skin, in particular the dorsum of hands and feet, and progeroid facial features. Hypotonia, developmental delay, and intellectual disability are common. In addition, cataracts, corneal clouding, wormian bones, lipodystrophy and osteopenia have been reported. Interprets True Bone density scan Inferred relationship Some 4
A rare, genetic, primary bone dysplasia with increased bone density disorder characterized by bone abnormalities, including metaphyseal plaques, osteopathia striata, marked cranial sclerosis, and sclerosis of the ribs and long bones, as well as macrocephaly, cleft palate, hearing loss, developmental delay, and facial dysmorphism (hypertelorism, prominent forehead, wide nasal bridge). Hypotonia, tracheo-/laryngomalacia, and astigmatic myopia are also associated. Interprets True Bone density scan Inferred relationship Some 2
Geroderma osteodysplastica Interprets True Bone density scan Inferred relationship Some 2
Hyperphosphatasemia tarda Interprets True Bone density scan Inferred relationship Some 2
Pyknodysostosis Interprets True Bone density scan Inferred relationship Some 4
A rare primary bone dysplasia characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock. Interprets True Bone density scan Inferred relationship Some 4
Endosteal hyperostoses Interprets True Bone density scan Inferred relationship Some 4
Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait. Interprets True Bone density scan Inferred relationship Some 2
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities. Interprets True Bone density scan Inferred relationship Some 4
Lenz-Majewski hyperostosis syndrome Interprets True Bone density scan Inferred relationship Some 4
Worth disease Interprets True Bone density scan Inferred relationship Some 2
Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted. Interprets True Bone density scan Inferred relationship Some 2
Dermatofibrosis lenticularis disseminata Interprets True Bone density scan Inferred relationship Some 3
A rare, genetic, dermis elastic tissue disease characterized by redundant, overfolded skin of variable severity, ranging from wrinkly skin to cutis laxa associated with pre- and post-natal growth retardation, hypotonia, mild to moderate developmental delay, late closure of anterior fontanelle, and craniofacial dysmorphism (including microcephaly, hypertelorism, downslanting palpebral fissures, large, prominent nasal root with funnel nose, small, low-set ears, long philtrum, drooping facial skin). Additional manifestations may include seizures, intellectual disability, congenital hip dislocation, inguinal hernia, and cortical and cerebellar malformations. Pretibial pseudo-ecchymotic skin lesions have occasionally been associated. Interprets True Bone density scan Inferred relationship Some 4
Craniometadiaphyseal dysplasia Interprets True Bone density scan Inferred relationship Some 4
Cole-Carpenter dysplasia (disorder) Interprets True Bone density scan Inferred relationship Some 1
Osteomesopycnosis Interprets False Bone density scan Inferred relationship Some 4
Diaphyseal medullary stenosis with bone malignancy (disorder) Interprets True Bone density scan Inferred relationship Some 4
Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. Interprets True Bone density scan Inferred relationship Some 7
Bruck syndrome Interprets True Bone density scan Inferred relationship Some 1
Neonatal osteosclerotic dysplasia (disorder) Interprets True Bone density scan Inferred relationship Some 2
Blomstrand dysplasia (disorder) Interprets True Bone density scan Inferred relationship Some 2
A rare disorder defined by generalised osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner. Interprets True Bone density scan Inferred relationship Some 2
Desmosterolosis (disorder) Interprets True Bone density scan Inferred relationship Some 2
Camurati-Engelmann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterised by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Interprets True Bone density scan Inferred relationship Some 2
A rare disorder characterised by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anaemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait. Interprets True Bone density scan Inferred relationship Some 4
A rare primary bone dysplasia characterised by reduced bone mineral density (defined as a Z score below -2.0), vertebral compression fractures, and recurrent peripheral fractures caused by low-impact trauma, leading to bone pain and impaired mobility. Patients typically become symptomatic in childhood or adolescence. Interprets True Bone density scan Inferred relationship Some 2
Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis, that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities. Interprets True Bone density scan Inferred relationship Some 3
Melorheostosis of spine (disorder) Interprets True Bone density scan Inferred relationship Some 3
Melorheostosis of right foot (disorder) Interprets True Bone density scan Inferred relationship Some 3
Melorheostosis of left foot (disorder) Interprets True Bone density scan Inferred relationship Some 3
Melorheostosis of right lower leg (disorder) Interprets True Bone density scan Inferred relationship Some 3
Melorheostosis of left lower leg Interprets True Bone density scan Inferred relationship Some 3
A rare primary bone dysplasia with increased bone density characterized by slowly progressive endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decade of life and include disturbances in smell, vision, facial sensation and expression, hearing, and balance, as well as headaches due to increased ocular and intracranial pressure. After the fourth decade, radiological progression is minimal, although decreased intracranial volume can lead to death in severe cases. Interprets True Bone density scan Inferred relationship Some 4
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. Interprets True Bone density scan Inferred relationship Some 3
A rare, genetic, primary bone dysplasia with decreased bone density characterized by fetal lethality, severe hypomineralization of the entire skeleton, barrel shaped thorax with short ribs, multiple intrauterine fractures of ribs and long bones, ascites, pleural effusion, and ventriculomegaly. Variable congenital developmental anomalies affecting the brain, lungs, and kidneys have also been associated. Interprets True Bone density scan Inferred relationship Some 2
A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal. Interprets True Bone density scan Inferred relationship Some 2
A rare systemic disease characterized by generalized joint hypermobility with recurrent joint dislocations, redundant and hyperextensible skin with poor wound healing and abnormal scarring, easy bruising, and osteopenia/osteoporosis. Additional manifestations include hypotonia, delayed motor development, foot deformities, prominent superficial veins in the chest region, vascular complications (like mitral valve prolapse and aortic root dilation), hernias, dental anomalies, scoliosis, and facial dysmorphisms (like high palate, micrognathia, narrow palate). Mode of inheritance is autosomal recessive. Interprets True Bone density scan Inferred relationship Some 5
A rare systemic disease characterized by the association of the features of Ehlers-Danlos syndrome with those of osteogenesis imperfecta. Predominant clinical manifestations include generalized joint hypermobility and dislocations, skin hyperextensibility and/or translucency, easy bruising, and invariable association with mild signs of osteogenesis imperfecta, including short stature, blue sclera, and osteopenia or fractures. Interprets True Bone density scan Inferred relationship Some 6
Melorheostosis of left humerus (disorder) Interprets True Bone density scan Inferred relationship Some 3
Melorheostosis of right humerus Interprets True Bone density scan Inferred relationship Some 3
Melorheostosis of humerus (disorder) Interprets True Bone density scan Inferred relationship Some 2
Melorheostosis of femur (disorder) Interprets True Bone density scan Inferred relationship Some 3
Melorheostosis of left femur (disorder) Interprets True Bone density scan Inferred relationship Some 3
Melorheostosis of right femur Interprets True Bone density scan Inferred relationship Some 3
Melorheostosis of bilateral femurs (disorder) Interprets True Bone density scan Inferred relationship Some 5
Melorheostosis of skull Interprets True Bone density scan Inferred relationship Some 3
Melorheostosis of left rib (disorder) Interprets True Bone density scan Inferred relationship Some 3
Melorheostosis of right rib (disorder) Interprets True Bone density scan Inferred relationship Some 3
Melorheostosis of rib Interprets True Bone density scan Inferred relationship Some 3
Melorheostosis of bone of right hand (disorder) Interprets True Bone density scan Inferred relationship Some 3
Melorheostosis of bone of hand (disorder) Interprets True Bone density scan Inferred relationship Some 3
Melorheostosis of bone of left hand Interprets True Bone density scan Inferred relationship Some 3
Melorheostosis of bone of left forearm Interprets True Bone density scan Inferred relationship Some 3

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