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1926006: osteopetrose (aandoening)

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteopetrosis
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis
\Disease\Developmental disorder\Developmental hereditary disorder\Osteopetrosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteopetrosis	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Osteopetrosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteopetrosis	Occurrence	Congenital	false	Inferred relationship	Some
Osteopetrosis	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Osteopetrosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteopetrosis	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Osteopetrosis	Occurrence	Congenital	false	Inferred relationship	Some	2
Osteopetrosis	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Osteopetrosis	Finding site	Bone structure	false	Inferred relationship	Some	2
Osteopetrosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteopetrosis	Finding site	Bone structure	true	Inferred relationship	Some	1
Osteopetrosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteopetrosis	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Osteopetrosis	Has interpretation	Below reference range	true	Inferred relationship	Some	2
Osteopetrosis	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Osteopetrosis	Interprets	Osteoclast turnover rate	true	Inferred relationship	Some	2
Osteopetrosis	Is a	Chronic disease of musculoskeletal system	true	Inferred relationship	Some
Osteopetrosis	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3
Osteopetrosis	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteopetrosis - delayed type	Is a	True	Osteopetrosis	Inferred relationship	Some
Osteopetrosis - intermediate type	Is a	True	Osteopetrosis	Inferred relationship	Some
Osteopetrosis with renal tubular acidosis	Is a	True	Osteopetrosis	Inferred relationship	Some
Autosomal recessive lethal osteopetrosis	Is a	False	Osteopetrosis	Inferred relationship	Some
Infantile malignant osteopetrosis	Is a	True	Osteopetrosis	Inferred relationship	Some
benigne autosomaal dominante osteopetrose	Is a	False	Osteopetrosis	Inferred relationship	Some
Osteopetrosis - unclassified	Is a	False	Osteopetrosis	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis (disorder)	Is a	True	Osteopetrosis	Inferred relationship	Some
Transient infantile osteopetrosis	Is a	True	Osteopetrosis	Inferred relationship	Some
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder)	Is a	True	Osteopetrosis	Inferred relationship	Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder)	Is a	True	Osteopetrosis	Inferred relationship	Some
Autosomal dominant osteopetrosis type 2 (disorder)	Is a	True	Osteopetrosis	Inferred relationship	Some
Osteopetrosis hypogammaglobulinemia syndrome (disorder)	Is a	False	Osteopetrosis	Inferred relationship	Some
Autosomal dominant osteopetrosis type 1	Is a	True	Osteopetrosis	Inferred relationship	Some
Pathological fracture of left foot due to osteopetrosis	Due to	True	Osteopetrosis	Inferred relationship	Some	2
Pathologic fracture of right foot due to osteopetrosis	Due to	True	Osteopetrosis	Inferred relationship	Some	2
Pathological fracture of foot due to osteopetrosis	Due to	True	Osteopetrosis	Inferred relationship	Some	2
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Is a	True	Osteopetrosis	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4322018	Osteopetrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
747194012	Osteopetrosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
67651000146112	osteopetrose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
67661000146110	osteopetrosis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
921821000146114	osteopetrose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)