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
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis
\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
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis
\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 of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Osteochondrodysplasia with 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\Osteochondrodysplasia with osteopetrosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis
\Disease\Disorder of body system\Disorder of musculoskeletal system\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

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

1982741000005115 Osteokondrodysplasi med osteopetrose da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core 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	Multiple kongenitte misdannelser	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	kongenit dysplasi	false	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis	Is a	Congenital malformation syndrome (disorder)	false	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis	Associated morphology	Kongenit malformation	false	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis	Associated morphology	kongenit 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	kongenit 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	true	Inferred relationship	Some	4
Osteochondrodysplasia with osteopetrosis	Associated morphology	Morphologically abnormal structure	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 (disorder)	Is a	True	Osteochondrodysplasia with osteopetrosis	Inferred relationship	Some
Craniometadiaphyseal dysplasia	Is a	True	Osteochondrodysplasia with osteopetrosis	Inferred relationship	Some
Lenz-Majewski hyperostosis syndrome	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
An extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (for example anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.	Is a	True	Osteochondrodysplasia with osteopetrosis	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
1982741000005115	Osteokondrodysplasi med osteopetrose	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)