50108000: Osteochondrodysplasia with osteopetrosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis
\Musculoskeletal finding\Musculoskeletal disorder\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 body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Disorder of body system\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis
\Disease\Congenital disease\Congenital anomaly\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\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Developmental disorder\Developmental hereditary disorder\Osteopetrosis\Osteochondrodysplasia with osteopetrosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Osteochondrodysplasia with osteopetrosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis

Status: current, Defined. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

787860011 Osteochondrodysplasia with osteopetrosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

83474016 Osteochondrodysplasia with osteopetrosis en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteochondrodysplasia with osteopetrosis	Pathological process	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	Pathological developmental process	true	Inferred relationship	Some	2
Osteochondrodysplasia with osteopetrosis	Is a	Osteopetrosis	true	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis	Is a	Osteochondrodysplasia	false	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis	Is a	Congenital malformation syndrome	false	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis	Is a	Multiple congenital malformations	false	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis	Finding site	Bone structure	false	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis	Associated morphology	Congenital dysplasia	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	Congenital dysplasia	false	Inferred relationship	Some	2
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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteopetrosis hypogammaglobulinaemia syndrome	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
Endosteal hyperostoses	Is a	True	Osteochondrodysplasia with osteopetrosis	Inferred relationship	Some
Craniometadiaphyseal dysplasia	Is a	True	Osteochondrodysplasia with osteopetrosis	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

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