50108000: Osteochondrodysplasia with osteopetrosis (disorder)

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

\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis
\Finding by site\Disorder by body site (disorder)\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\Osteochondrodysplasia with osteopetrosis
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Finding by site\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis
\Disease\Disorder by body site (disorder)\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\Osteochondrodysplasia with osteopetrosis
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Developmental disorder\Developmental hereditary disorder\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
83474016	Osteochondrodysplasia with osteopetrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
787860011	Osteochondrodysplasia with osteopetrosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
1997461000052117	osteokondrodysplasi med osteopetros	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteochondrodysplasia with osteopetrosis	Is a	Skeletal dysplasia	true	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis	Is a	multipla medfödda missbildningar	false	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis	Associated morphology	Abnormally hard consistency	false	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis	Occurrence	Congenital	false	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis	Finding site	Skeletal system structure	true	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis	Is a	Osteopetrosis	true	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis	Is a	osteokondrodysplasi	false	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis	Is a	Congenital malformation syndrome (disorder)	false	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis	Associated morphology	medfödd missbildning	false	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis	Occurrence	Congenital	true	Inferred relationship	Some	2
Osteochondrodysplasia with osteopetrosis	Finding site	Bone structure	true	Inferred relationship	Some	2
Osteochondrodysplasia with osteopetrosis	Associated morphology	kongenital dysplasi	false	Inferred relationship	Some	2
Osteochondrodysplasia with osteopetrosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	4
Osteochondrodysplasia with osteopetrosis	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Osteochondrodysplasia with osteopetrosis	Interprets	Osteoclast turnover rate	true	Inferred relationship	Some	3
Osteochondrodysplasia with osteopetrosis	Has interpretation	Below reference range	true	Inferred relationship	Some	3
Osteochondrodysplasia with osteopetrosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Endosteal hyperostoses	Is a	True	Osteochondrodysplasia with osteopetrosis	Inferred relationship	Some
Craniometadiaphyseal dysplasia	Is a	True	Osteochondrodysplasia with osteopetrosis	Inferred relationship	Some
Lenz-Majewski hyperostosis syndrome (disorder)	Is a	True	Osteochondrodysplasia with osteopetrosis	Inferred relationship	Some
Sclerosteosis	Is a	True	Osteochondrodysplasia with osteopetrosis	Inferred relationship	Some
Cleidocranial dysostosis	Is a	False	Osteochondrodysplasia with osteopetrosis	Inferred relationship	Some
Pyknodysostosis	Is a	True	Osteochondrodysplasia with osteopetrosis	Inferred relationship	Some
Osteopetrosis hypogammaglobulinemia syndrome (disorder)	Is a	True	Osteochondrodysplasia with osteopetrosis	Inferred relationship	Some

This concept is not in any reference sets

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