34643004: Diaphyseal dysplasia (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\Diaphyseal dysplasia (disorder)
\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\Diaphyseal dysplasia (disorder)
\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\Diaphyseal dysplasia (disorder)
\Procedure related finding\Bone density finding (finding)\Bone density above reference range\Dysplasia with increased bone density\Diaphyseal dysplasia (disorder)

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Diaphyseal dysplasia (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Diaphyseal dysplasia (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Diaphyseal dysplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Diaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Diaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Diaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Diaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\Diaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Diaphyseal dysplasia (disorder)
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Diaphyseal dysplasia (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Diaphyseal dysplasia (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Diaphyseal dysplasia (disorder)	Is a	Disorder of bone and articular cartilage	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Is a	Congenital anomaly of cartilage	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Is a	Osteochondrodysplasia syndrome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Is a	Dysplasia with increased bone density	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Finding site	Diaphysis structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diaphyseal dysplasia (disorder)	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diaphyseal dysplasia (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diaphyseal dysplasia (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diaphyseal dysplasia (disorder)	Is a	Disorder of bone (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Is a	Skeletal dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Is a	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Is a	Disorder of bone (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Is a	Congenital connective tissue disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Is a	Skeletal dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Finding site	Diaphysis structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diaphyseal dysplasia (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diaphyseal dysplasia (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Diaphyseal dysplasia (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Diaphyseal dysplasia (disorder)	Finding site	Diaphysis structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Diaphyseal dysplasia (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diaphyseal dysplasia (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diaphyseal dysplasia (disorder)	Finding site	Diaphysis structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diaphyseal dysplasia (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Diaphyseal dysplasia (disorder)	Is a	constatation à propos d'une région corporelle	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Diaphyseal dysplasia (disorder)	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Diaphyseal dysplasia (disorder)	Interprets	Bone density scan	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Diaphyseal dysplasia (disorder)	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Diaphyseal dysplasia with anaemia	Is a	False	Diaphyseal dysplasia (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)
Progressive diaphyseal dysplasia	Is a	False	Diaphyseal dysplasia (disorder)	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
57824015	Diaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
57825019	Engelmann's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
57826018	Diaphyseal sclerosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
57827010	Osteopathia hyperostotica multiplex infantis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
485906010	Engelmann syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
485907018	Engelman's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
485908011	Camurati-Engelmann syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
766191016	Diaphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4592854016	Progressive diaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4592855015	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
57824015	Diaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
57824015	Diaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
57825019	Engelmann's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
57826018	Diaphyseal sclerosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
57826018	Diaphyseal sclerosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
57827010	Osteopathia hyperostotica multiplex infantis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
57827010	Osteopathia hyperostotica multiplex infantis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
485906010	Engelmann syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
485907018	Engelman's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
485908011	Camurati-Engelmann syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
766191016	Diaphyseal dysplasia (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
766191016	Diaphyseal dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4592854016	Progressive diaphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4592855015	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3412151001000111	Camurati-Engelmann-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4502961000241113	dysplasie diaphysaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4502961000241113	dysplasie diaphysaire	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3412151001000111	Camurati-Engelmann-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module