75654009: Benign autosomal dominant 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\Benign autosomal dominant osteopetrosis
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Osteopetrosis\Benign autosomal dominant osteopetrosis
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Osteopetrosis\Benign autosomal dominant osteopetrosis
\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\Benign autosomal dominant osteopetrosis
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Benign autosomal dominant osteopetrosis

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

125655011 Benign autosomal dominant osteopetrosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

816288011 Benign autosomal dominant 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
Benign autosomal dominant osteopetrosis	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
Benign autosomal dominant osteopetrosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Benign autosomal dominant osteopetrosis	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	2
Benign autosomal dominant osteopetrosis	interprète (attribut)	Osteoclast turnover rate (observable entity)	true	Inferred relationship	Some	2
Benign autosomal dominant osteopetrosis	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	3
Benign autosomal dominant osteopetrosis	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Benign autosomal dominant osteopetrosis	est un(e) (attribut)	Connective tissue hereditary disorder	false	Inferred relationship	Some
Benign autosomal dominant osteopetrosis	est un(e) (attribut)	Osteopetrosis	true	Inferred relationship	Some
Benign autosomal dominant osteopetrosis	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Benign autosomal dominant osteopetrosis	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Benign autosomal dominant osteopetrosis	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Benign autosomal dominant osteopetrosis	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Benign autosomal dominant osteopetrosis	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Benign autosomal dominant osteopetrosis	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Benign autosomal dominant osteopetrosis	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Benign autosomal dominant osteopetrosis	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Benign autosomal dominant osteopetrosis	survenue (attribut)	congénital	false	Inferred relationship	Some
Benign autosomal dominant osteopetrosis	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
125655011	Benign autosomal dominant osteopetrosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
816288011	Benign autosomal dominant osteopetrosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core