367489004: Infantile malignant osteopetrosis (disorder)

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\A rare congenital disorder of bone resorption characterised by generalised skeletal densification.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Osteopetrosis\A rare congenital disorder of bone resorption characterised by generalised skeletal densification.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Osteopetrosis\A rare congenital disorder of bone resorption characterised by generalised skeletal densification.
\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\A rare congenital disorder of bone resorption characterised by generalised skeletal densification.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\A rare congenital disorder of bone resorption characterised by generalised skeletal densification.

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\A rare congenital disorder of bone resorption characterised by generalised skeletal densification.
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis\A rare congenital disorder of bone resorption characterised by generalised skeletal densification.
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A rare congenital disorder of bone resorption characterised by generalised skeletal densification.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\A rare congenital disorder of bone resorption characterised by generalised skeletal densification.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\A rare congenital disorder of bone resorption characterised by generalised skeletal densification.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Osteopetrosis\A rare congenital disorder of bone resorption characterised by generalised skeletal densification.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Osteopetrosis\A rare congenital disorder of bone resorption characterised by generalised skeletal densification.
\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\A rare congenital disorder of bone resorption characterised by generalised skeletal densification.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\A rare congenital disorder of bone resorption characterised by generalised skeletal densification.
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteopetrosis\A rare congenital disorder of bone resorption characterised by generalised skeletal densification.
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\A rare congenital disorder of bone resorption characterised by generalised skeletal densification.
\Disease\Developmental disorder\Developmental hereditary disorder\Osteopetrosis\A rare congenital disorder of bone resorption characterised by generalised skeletal densification.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\A rare congenital disorder of bone resorption characterised by generalised skeletal densification.

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	Is a	Osteopetrosis	true	Inferred relationship	Some
A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	Occurrence	Congenital	false	Inferred relationship	Some
A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	Finding site	Bone structure	true	Inferred relationship	Some	1
A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	Finding site	Bone structure	false	Inferred relationship	Some	1
A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	Occurrence	Congenital	false	Inferred relationship	Some	2
A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	Finding site	Bone structure	false	Inferred relationship	Some	2
A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	Occurrence	Congenital	true	Inferred relationship	Some	1
A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Some
A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	Has interpretation	Below reference range	true	Inferred relationship	Some	2
A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	Interprets	Osteoclast turnover rate	true	Inferred relationship	Some	2
A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	Clinical course	Progressive	true	Inferred relationship	Some	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Henck-Assman disease	Is a	False	A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	Inferred relationship	Some

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
5454108019	A rare congenital disorder of bone resorption characterised by generalised skeletal densification.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5454109010	A rare congenital disorder of bone resorption characterized by generalized skeletal densification.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
492384014	Infantile malignant osteopetrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
492386011	Marble bone disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
776595019	Infantile malignant osteopetrosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1228699013	Congenital osteopetrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1228700014	Autosomal recessive lethal osteopetrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3437513010	Autosomal recessive malignant osteopetrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1816221000195116	osteopetrosi maligna infantile	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5234261000241117	ostéopétrose maligne infantile	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3450481001000117	Osteopetrose, maligne, autosomal-rezessive Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module