50108000: Osteochondrodysplasia with 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\Osteochondrodysplasia with osteopetrosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)
\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 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)

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

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

83474016 Osteochondrodysplasia with osteopetrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

787860011 Osteochondrodysplasia with osteopetrosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

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)

Expanded Value Set

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

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
83474016	Osteochondrodysplasia with osteopetrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
787860011	Osteochondrodysplasia with osteopetrosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
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)