50108000: Osteochondrodysplasia with osteopetrosis (disorder)

SNOMED CT Concept\constatation clinique\...

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\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\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)
\Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Osteopetrosis\Osteochondrodysplasia with osteopetrosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Osteochondrodysplasia with osteopetrosis (disorder)
\Disease\trouble du développement\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

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

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

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteochondrodysplasia with osteopetrosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis (disorder)	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	4
Osteochondrodysplasia with osteopetrosis (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	2
Osteochondrodysplasia with osteopetrosis (disorder)	interprète (attribut)	Osteoclast turnover rate (observable entity)	true	Inferred relationship	Some	3
Osteochondrodysplasia with osteopetrosis (disorder)	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	3
Osteochondrodysplasia with osteopetrosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Osteochondrodysplasia with osteopetrosis (disorder)	est un(e) (attribut)	Osteopetrosis	true	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis (disorder)	est un(e) (attribut)	Osteochondrodysplasia	false	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis (disorder)	est un(e) (attribut)	Congenital malformation syndrome (disorder)	false	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis (disorder)	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis (disorder)	est un(e) (attribut)	Skeletal dysplasia	true	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis (disorder)	est un(e) (attribut)	Multiple congenital malformations	false	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
Osteochondrodysplasia with osteopetrosis (disorder)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	2
Osteochondrodysplasia with osteopetrosis (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Osteochondrodysplasia with osteopetrosis (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis (disorder)	morphologie associée (attribut)	Abnormally hard consistency	false	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis (disorder)	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Osteochondrodysplasia with osteopetrosis (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis (disorder)	localisation d'une constatation (attribut)	Skeletal system structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteopetrosis hypogammaglobulinemia syndrome (disorder)	est un(e) (attribut)	True	Osteochondrodysplasia with osteopetrosis (disorder)	Inferred relationship	Some
Lenz-Majewski hyperostosis syndrome	est un(e) (attribut)	True	Osteochondrodysplasia with osteopetrosis (disorder)	Inferred relationship	Some
Sclerosteosis	est un(e) (attribut)	True	Osteochondrodysplasia with osteopetrosis (disorder)	Inferred relationship	Some
Cleidocranial dysostosis	est un(e) (attribut)	False	Osteochondrodysplasia with osteopetrosis (disorder)	Inferred relationship	Some
Pyknodysostosis	est un(e) (attribut)	True	Osteochondrodysplasia with osteopetrosis (disorder)	Inferred relationship	Some
Endosteal hyperostoses	est un(e) (attribut)	True	Osteochondrodysplasia with osteopetrosis (disorder)	Inferred relationship	Some
Craniometadiaphyseal dysplasia	est un(e) (attribut)	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
787860011	Osteochondrodysplasia with osteopetrosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
83474016	Osteochondrodysplasia with osteopetrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core