367489004: Infantile malignant osteopetrosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile malignant osteopetrosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Infantile malignant osteopetrosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Infantile malignant osteopetrosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile malignant osteopetrosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile malignant osteopetrosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Infantile malignant osteopetrosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Infantile malignant osteopetrosis
\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\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Developmental disorder\Developmental hereditary disorder\Osteopetrosis\Infantile malignant osteopetrosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Infantile malignant osteopetrosis

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

Descriptions:

Id Description Lang Type Status Case? Module

492384014 Infantile malignant osteopetrosis en Synonym Active Entire term case insensitive SNOMED CT core module

492386011 Marble bone disease en Synonym Active Entire term case insensitive SNOMED CT core module

776595019 Infantile malignant osteopetrosis (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1228699013 Congenital osteopetrosis en Synonym Active Entire term case insensitive SNOMED CT core module

1228700014 Autosomal recessive lethal osteopetrosis en Synonym Active Entire term case insensitive SNOMED CT core module

3437513010 Autosomal recessive malignant osteopetrosis en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Infantile malignant osteopetrosis	Is a	Osteopetrosis	true	Inferred relationship	Existential restriction modifier
Infantile malignant osteopetrosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Infantile malignant osteopetrosis	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Infantile malignant osteopetrosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Infantile malignant osteopetrosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	1
Infantile malignant osteopetrosis	Associated morphology	Congenital anomaly	false	Inferred relationship	Existential restriction modifier	1
Infantile malignant osteopetrosis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	2
Infantile malignant osteopetrosis	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	2
Infantile malignant osteopetrosis	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier	2
Infantile malignant osteopetrosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Infantile malignant osteopetrosis	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Infantile malignant osteopetrosis	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier
Infantile malignant osteopetrosis	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Existential restriction modifier
Infantile malignant osteopetrosis	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Infantile malignant osteopetrosis	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Infantile malignant osteopetrosis	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	2
Infantile malignant osteopetrosis	Interprets	Osteoclast turnover rate	true	Inferred relationship	Existential restriction modifier	2
Infantile malignant osteopetrosis	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Henck-Assman disease	Is a	False	Infantile malignant osteopetrosis	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
492384014	Infantile malignant osteopetrosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
492386011	Marble bone disease	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
776595019	Infantile malignant osteopetrosis (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1228699013	Congenital osteopetrosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
1228700014	Autosomal recessive lethal osteopetrosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3437513010	Autosomal recessive malignant osteopetrosis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module