254120004: Dysplasia with increased bone density (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Procedure related finding\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range (finding)\Dysplasia with increased bone density
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding above reference range\Bone density above reference range (finding)\Dysplasia with increased bone density
\Procedure related finding\Evaluation finding\Measurement finding\Measurement finding outside reference range\Bone densimetry abnormal\Bone density above reference range (finding)\Dysplasia with increased bone density
\Procedure related finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density

\Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Dysplasia with increased bone density
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density

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

2235481000005115 Dysplasi med forhøjet knogletæthed da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysplasia with increased bone density	Is a	Skeletal dysplasia	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	kongenit dysplasi	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	kongenit dysplasi	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	kongenit dysplasi	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 (qualifier value)	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
A very rare benign bone disorder with characteristics of bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. The disease may be underdiagnosed due to confusion with autosomal dominant osteopetrosis. The condition is usually found incidentally on radiological examination and is very mild, sometimes accompanied by pain. Increased density of the vertebral plates, pelvis and occasionally of the upper femur have been reported, as well as kyphoscoliosis and femoral cysts.	Is a	True	Dysplasia with increased bone density	Inferred relationship	Some
Endosteal hyperostoses (disorder)	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	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
A rare clinically variable bone dysplasia syndrome with characteristics of 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. In more than 90% of patients, mutations in the transforming growth factor TGFB1 gene (19q13.1) are detected. Inherited as an autosomal dominant trait with reduced penetrance.	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 (disorder)	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
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 (for example anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.	Is a	True	Dysplasia with increased bone density	Inferred relationship	Some
An extremely rare primary bone dysplasia with increased bone density with characteristics of lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae and coronal clefts in vertebral bodies.	Is a	True	Dysplasia with increased bone density	Inferred relationship	Some
A rare genetic primary bone dysplasia with increased bone density disorder with characteristics of 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

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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
2235481000005115	Dysplasi med forhøjet knogletæthed	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)