254130008: Endosteal hyperostoses (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\Endosteal hyperostoses
\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\Endosteal hyperostoses
\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\Endosteal hyperostoses
\Procedure related finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density\Endosteal hyperostoses

\Musculoskeletal finding\Bone finding\Bone density finding (finding)\Bone density above reference range (finding)\Dysplasia with increased bone density\Endosteal hyperostoses
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Dysplasia with increased bone density\Endosteal hyperostoses
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Dysplasia with increased bone density\Endosteal hyperostoses
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\Endosteal hyperostoses
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Dysplasia with increased bone density\Endosteal hyperostoses
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Dysplasia with increased bone density\Endosteal hyperostoses
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Dysplasia with increased bone density\Endosteal hyperostoses
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Dysplasia with increased bone density\Endosteal hyperostoses
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Dysplasia with increased bone density\Endosteal hyperostoses
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Disease\Developmental disorder\Developmental hereditary disorder\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Dysplasia with increased bone density\Endosteal hyperostoses
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis\Endosteal hyperostoses

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378300019 Endosteal hyperostoses en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

644979015 Endosteal hyperostoses (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5082041000241117 hyperostose endostéale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Endosteal hyperostoses	Is a	Dysplasia with increased bone density	true	Inferred relationship	Some
Endosteal hyperostoses	Is a	Osteochondrodysplasia with osteopetrosis	true	Inferred relationship	Some
Endosteal hyperostoses	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Endosteal hyperostoses	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Endosteal hyperostoses	Finding site	Bone structure	true	Inferred relationship	Some	1
Endosteal hyperostoses	Associated morphology	Abnormally hard consistency	false	Inferred relationship	Some
Endosteal hyperostoses	Occurrence	Congenital	false	Inferred relationship	Some
Endosteal hyperostoses	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Endosteal hyperostoses	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Endosteal hyperostoses	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Endosteal hyperostoses	Finding site	Bone structure	false	Inferred relationship	Some	1
Endosteal hyperostoses	Occurrence	Congenital	false	Inferred relationship	Some	2
Endosteal hyperostoses	Finding site	Bone structure	false	Inferred relationship	Some	2
Endosteal hyperostoses	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Endosteal hyperostoses	Occurrence	Congenital	true	Inferred relationship	Some	1
Endosteal hyperostoses	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Endosteal hyperostoses	Has interpretation	Above reference range	true	Inferred relationship	Some	4
Endosteal hyperostoses	Interprets	Bone density scan	true	Inferred relationship	Some	4
Endosteal hyperostoses	Interprets	Osteoclast turnover rate	true	Inferred relationship	Some	3
Endosteal hyperostoses	Clinical course	Progressive	true	Inferred relationship	Some	2
Endosteal hyperostoses	Has interpretation	Below reference range	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Worth disease	Is a	True	Endosteal hyperostoses	Inferred relationship	Some
Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait.	Is a	True	Endosteal hyperostoses	Inferred relationship	Some
Hyperphosphatasemia tarda	Is a	True	Endosteal hyperostoses	Inferred relationship	Some
A rare primary bone dysplasia with increased bone density characterized by slowly progressive endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decade of life and include disturbances in smell, vision, facial sensation and expression, hearing, and balance, as well as headaches due to increased ocular and intracranial pressure. After the fourth decade, radiological progression is minimal, although decreased intracranial volume can lead to death in severe cases.	Is a	True	Endosteal hyperostoses	Inferred relationship	Some

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
378300019	Endosteal hyperostoses	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644979015	Endosteal hyperostoses (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5082041000241117	hyperostose endostéale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module