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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Diaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Diaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Diaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Diaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Diaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Diaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Diaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Dysplasia with increased bone density\Diaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia
\Disease\Congenital disease\Congenital malformation\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 malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Dysplasia with increased bone density\Diaphyseal dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Diaphyseal dysplasia

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

Descriptions:

Id Description Lang Type Status Case? Module

57824015 Diaphyseal dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

57825019 Engelmann's disease en Synonym Active Entire term case sensitive SNOMED CT core module

57826018 Diaphyseal sclerosis en Synonym Active Entire term case insensitive SNOMED CT core module

57827010 Osteopathia hyperostotica multiplex infantis en Synonym Active Entire term case insensitive SNOMED CT core module

485906010 Engelmann syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

485907018 Engelman's disease en Synonym Active Entire term case sensitive SNOMED CT core module

485908011 Camurati-Engelmann syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

766191016 Diaphyseal dysplasia (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4592854016 Progressive diaphyseal dysplasia en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Ghosal hematodiaphyseal dysplasia	Is a	False	Diaphyseal dysplasia	Inferred relationship	Existential restriction modifier
Progressive diaphyseal dysplasia	Is a	False	Diaphyseal dysplasia	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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