34643004: Diaphyseal dysplasia (disorder)

SNOMED CT Concept\Clinical finding\...

\Evaluation finding\Imaging finding\Bone densimetry abnormal\Bone density above reference range\Dysplasia with increased bone density\Diaphyseal dysplasia

\General finding of observation of patient\Procedure related finding\Bone density finding\Bone density above reference range\Dysplasia with increased bone density\Diaphyseal dysplasia

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Diaphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Diaphyseal dysplasia
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Diaphyseal dysplasia
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Diaphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Diaphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Diaphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Diaphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Diaphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Diaphyseal dysplasia
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Diaphyseal dysplasia
\Disease\Developmental disorder\Developmental hereditary disorder\Diaphyseal dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4592854016 Progressive diaphyseal dysplasia en Synonym Active Case insensitive SNOMED CT core

485906010 Engelmann syndrome en Synonym Active Case sensitive SNOMED CT core

485907018 Engelman's disease en Synonym Active Case sensitive SNOMED CT core

485908011 Camurati-Engelmann syndrome en Synonym Active Case sensitive SNOMED CT core

57824015 Diaphyseal dysplasia en Synonym Active Case insensitive SNOMED CT core

57825019 Engelmann's disease en Synonym Active Case sensitive SNOMED CT core

57826018 Diaphyseal sclerosis en Synonym Active Case insensitive SNOMED CT core

57827010 Osteopathia hyperostotica multiplex infantis en Synonym Active Case insensitive SNOMED CT core

766191016 Diaphyseal dysplasia (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Diaphyseal dysplasia	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Diaphyseal dysplasia	Is a	Finding of body region	false	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Diaphyseal dysplasia	Clinical course	Progressive	true	Inferred relationship	Some	3
Diaphyseal dysplasia	Interprets	Bone density scan	true	Inferred relationship	Some	2
Diaphyseal dysplasia	Has interpretation	Above reference range	true	Inferred relationship	Some	2
Diaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Diaphyseal dysplasia	Is a	Disorder of bone	false	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Disorder of bone and articular cartilage	false	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Congenital anomaly of cartilage	false	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Osteochondrodysplasia syndrome	false	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Dysplasia with increased bone density	true	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Congenital skeletal dysplasia	false	Inferred relationship	Some
Diaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Congenital anomaly	false	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Disorder of bone	false	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Congenital connective tissue disorder	false	Inferred relationship	Some
Diaphyseal dysplasia	Finding site	Bone structure	false	Inferred relationship	Some
Diaphyseal dysplasia	Is a	Congenital skeletal dysplasia	false	Inferred relationship	Some
Diaphyseal dysplasia	Finding site	Structure of diaphysis	false	Inferred relationship	Some	1
Diaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Diaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Diaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Diaphyseal dysplasia	Finding site	Structure of diaphysis	false	Inferred relationship	Some	2
Diaphyseal dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Diaphyseal dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Diaphyseal dysplasia	Finding site	Structure of diaphysis	true	Inferred relationship	Some	1
Diaphyseal dysplasia	Finding site	Structure of diaphysis	false	Inferred relationship	Some	1
Diaphyseal dysplasia	Finding site	Cartilaginous tissue structure	false	Inferred relationship	Some
Diaphyseal dysplasia	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Diaphyseal dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Diaphyseal dysplasia	Occurrence	Congenital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Diaphyseal dysplasia with anaemia	Is a	False	Diaphyseal dysplasia	Inferred relationship	Some
Progressive diaphyseal dysplasia	Is a	False	Diaphyseal dysplasia	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4592854016	Progressive diaphyseal dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
485906010	Engelmann syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
485907018	Engelman's disease	en	Synonym	Active	Case sensitive	SNOMED CT core
485908011	Camurati-Engelmann syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
57824015	Diaphyseal dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
57825019	Engelmann's disease	en	Synonym	Active	Case sensitive	SNOMED CT core
57826018	Diaphyseal sclerosis	en	Synonym	Active	Case insensitive	SNOMED CT core
57827010	Osteopathia hyperostotica multiplex infantis	en	Synonym	Active	Case insensitive	SNOMED CT core
766191016	Diaphyseal dysplasia (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	SNOMED CT core