254120004: Dysplasia with increased bone density (disorder)

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

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Dysplasia with increased bone density	Is a	Skeletal dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysplasia with increased bone density	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with increased bone density	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysplasia with increased bone density	Finding site	Skeletal system structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with increased bone density	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with increased bone density	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with increased bone density	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with increased bone density	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with increased bone density	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysplasia with increased bone density	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysplasia with increased bone density	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysplasia with increased bone density	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with increased bone density	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Dysplasia with increased bone density	Interprets	Bone density scan	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysplasia with increased bone density	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Dysplasia with increased bone density	Is a	Bone density above reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysplasia with increased bone density	Is a	Disorder of bone (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysplasia with increased bone density	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Craniodiaphyseal dysplasia	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Dysosteosclerosis	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteosclerosis - Stanescu type	Is a	False	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Axial osteosclerosis	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Endosteal hyperostoses (disorder)	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Pachydermoperiostosis - familial	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Oculodento-osseous dysplasia	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniometadiaphyseal dysplasia	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Lenz-Majewski hyperostosis syndrome (disorder)	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive lethal osteopetrosis	Is a	False	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Infantile cortical hyperostosis	Is a	False	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Pyle metaphyseal dysplasia	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Craniometaphyseal dysplasia	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Melorheostosis	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Frontometaphyseal dysplasia	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteopathia striata	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive myositis ossificans	Is a	False	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Pyknodysostosis (disorder)	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Osteopoikilosis (disorder)	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Hyperphosphatasemia with bone disease	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Mixed sclerosing bone dysplasia (disorder)	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal medullary stenosis with bone malignancy (disorder)	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Metaphyseal dysplasia Braun Tinschert type (disorder)	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Cranioosteoarthropathy (disorder)	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Ehlers-Danlos syndrome progeroid type	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
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	Existential restriction modifier (core metadata concept)
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	Existential restriction modifier (core metadata concept)
Osteopetrosis hypogammaglobulinemia syndrome (disorder)	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
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	Existential restriction modifier (core metadata concept)
Mixed sclerosing bone dystrophy with extra-skeletal manifestation	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Neonatal osteosclerotic dysplasia (disorder)	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia with anaemia	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)
Early-onset calcifying leucoencephalopathy, skeletal dysplasia	Is a	True	Dysplasia with increased bone density	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any 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
378285011	Dysplasia with increased bone density	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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	Only initial character 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
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