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1926006: Osteopetrosis (disorder)

SNOMED CT Concept\constatation clinique\...

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

4322018 Osteopetrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

747194012 Osteopetrosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteopetrosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteopetrosis	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
Osteopetrosis	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	2
Osteopetrosis	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Osteopetrosis	interprète (attribut)	Osteoclast turnover rate (observable entity)	true	Inferred relationship	Some	2
Osteopetrosis	est un(e) (attribut)	maladie chronique de l'appareil locomoteur	true	Inferred relationship	Some
Osteopetrosis	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	3
Osteopetrosis	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Osteopetrosis	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Osteopetrosis	est un(e) (attribut)	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Osteopetrosis	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Osteopetrosis	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Osteopetrosis	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Osteopetrosis	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Osteopetrosis	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Osteopetrosis	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Osteopetrosis	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Osteopetrosis	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Osteopetrosis	survenue (attribut)	congénital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Osteopetrosis hypogammaglobulinemia syndrome (disorder)	est un(e) (attribut)	False	Osteopetrosis	Inferred relationship	Some
Osteochondrodysplasia with osteopetrosis (disorder)	est un(e) (attribut)	True	Osteopetrosis	Inferred relationship	Some
Osteopetrosis (disorder)	est un(e) (attribut)	False	Osteopetrosis	Inferred relationship	Some
Infantile malignant osteopetrosis	est un(e) (attribut)	True	Osteopetrosis	Inferred relationship	Some
Osteopetrosis - delayed type	est un(e) (attribut)	True	Osteopetrosis	Inferred relationship	Some
Benign autosomal dominant osteopetrosis	est un(e) (attribut)	True	Osteopetrosis	Inferred relationship	Some
Osteopetrosis - unclassified	est un(e) (attribut)	False	Osteopetrosis	Inferred relationship	Some
Transient infantile osteopetrosis	est un(e) (attribut)	True	Osteopetrosis	Inferred relationship	Some
syndrome de dysplasie ectodermique anhidrotique-immunodéficience-ostéopétrose-lymphoedème	est un(e) (attribut)	True	Osteopetrosis	Inferred relationship	Some
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder)	est un(e) (attribut)	True	Osteopetrosis	Inferred relationship	Some
Autosomal dominant osteopetrosis type 2 (disorder)	est un(e) (attribut)	True	Osteopetrosis	Inferred relationship	Some
Osteopetrosis - intermediate type	est un(e) (attribut)	True	Osteopetrosis	Inferred relationship	Some
Osteopetrosis with renal tubular acidosis	est un(e) (attribut)	True	Osteopetrosis	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4322018	Osteopetrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
747194012	Osteopetrosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core