FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

254120004: Dysplasia with increased bone density (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
378285011 Dysplasia with increased bone density en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
644968013 Dysplasia with increased bone density (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5081941000241112 dysplasie avec la densité osseuse accrue fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

78 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dysplasia with increased bone density Is a Congenital skeletal dysplasia (disorder) true Inferred relationship Some
Dysplasia with increased bone density Finding site Bone structure false Inferred relationship Some 1
Dysplasia with increased bone density Occurrence Congenital false Inferred relationship Some
Dysplasia with increased bone density Finding site Skeletal system structure true Inferred relationship Some 1
Dysplasia with increased bone density Associated morphology Dysplasia true Inferred relationship Some 1
Dysplasia with increased bone density Associated morphology Congenital dysplasia false Inferred relationship Some 1
Dysplasia with increased bone density Finding site Bone structure false Inferred relationship Some 1
Dysplasia with increased bone density Associated morphology Congenital dysplasia false Inferred relationship Some 1
Dysplasia with increased bone density Occurrence Congenital false Inferred relationship Some 2
Dysplasia with increased bone density Finding site Bone structure false Inferred relationship Some 2
Dysplasia with increased bone density Associated morphology Congenital dysplasia false Inferred relationship Some 2
Dysplasia with increased bone density Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Dysplasia with increased bone density Occurrence Congenital true Inferred relationship Some 1
Dysplasia with increased bone density Interprets Bone density scan true Inferred relationship Some 2
Dysplasia with increased bone density Has interpretation Above reference range true Inferred relationship Some 2
Dysplasia with increased bone density Is a Bone density above reference range (finding) true Inferred relationship Some
Dysplasia with increased bone density Is a Disorder of bone (disorder) true Inferred relationship Some
Dysplasia with increased bone density Finding site Bone structure true Inferred relationship Some 3
Inbound Relationships Type Active Source Characteristic Refinability Group
Craniodiaphyseal dysplasia Is a True Dysplasia with increased bone density Inferred relationship Some
Dysosteosclerosis Is a True Dysplasia with increased bone density Inferred relationship Some
Osteosclerosis - Stanescu type Is a False Dysplasia with increased bone density Inferred relationship Some
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. Is a True Dysplasia with increased bone density Inferred relationship Some
Endosteal hyperostoses Is a True Dysplasia with increased bone density Inferred relationship Some
Pachydermoperiostosis - familial Is a True Dysplasia with increased bone density Inferred relationship Some
Oculodento-osseous dysplasia Is a True Dysplasia with increased bone density Inferred relationship Some
Craniometadiaphyseal dysplasia Is a True Dysplasia with increased bone density Inferred relationship Some
Lenz-Majewski hyperostosis syndrome Is a True Dysplasia with increased bone density Inferred relationship Some
Autosomal recessive lethal osteopetrosis Is a False Dysplasia with increased bone density Inferred relationship Some
Infantile cortical hyperostosis (disorder) Is a False Dysplasia with increased bone density Inferred relationship Some
Pyle metaphyseal dysplasia Is a True Dysplasia with increased bone density Inferred relationship Some
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. Is a True Dysplasia with increased bone density Inferred relationship Some
Craniometaphyseal dysplasia Is a True Dysplasia with increased bone density Inferred relationship Some
Melorheostosis Is a True Dysplasia with increased bone density Inferred relationship Some
Frontometaphyseal dysplasia Is a True Dysplasia with increased bone density Inferred relationship Some
Osteopathia striata Is a True Dysplasia with increased bone density Inferred relationship Some
Progressive myositis ossificans Is a False Dysplasia with increased bone density Inferred relationship Some
Pyknodysostosis Is a True Dysplasia with increased bone density Inferred relationship Some
Osteopoikilosis Is a True Dysplasia with increased bone density Inferred relationship Some
Hyperphosphatasemia with bone disease Is a True Dysplasia with increased bone density Inferred relationship Some
Mixed sclerosing bone dysplasia (disorder) Is a True Dysplasia with increased bone density Inferred relationship Some
Diaphyseal medullary stenosis with bone malignancy (disorder) Is a True Dysplasia with increased bone density Inferred relationship Some
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. Is a True Dysplasia with increased bone density Inferred relationship Some
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. Is a True Dysplasia with increased bone density Inferred relationship Some
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. Is a True Dysplasia with increased bone density Inferred relationship Some
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. Is a True Dysplasia with increased bone density Inferred relationship Some
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. Is a True Dysplasia with increased bone density Inferred relationship Some
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. Is a True Dysplasia with increased bone density Inferred relationship Some
hyperostose corticale dysplasique Is a False Dysplasia with increased bone density Inferred relationship Some
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. Is a True Dysplasia with increased bone density Inferred relationship Some
Neonatal osteosclerotic dysplasia (disorder) Is a True Dysplasia with increased bone density Inferred relationship Some
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. Is a True Dysplasia with increased bone density 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 Dysplasia with increased bone density Inferred relationship Some

Reference Sets

GB English

US English

Back to Start