254122007: Osteopetrosis with renal tubular acidosis (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\Osteopetrosis with renal tubular acidosis
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\maladie métabolique de l'os\Osteopetrosis with renal tubular acidosis
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\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\Osteopetrosis with renal tubular acidosis
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Osteopetrosis with renal tubular acidosis
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteopetrosis with renal tubular acidosis

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\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\Osteopetrosis with renal tubular acidosis
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\maladie métabolique de l'os\Osteopetrosis with renal tubular acidosis
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Disease\trouble métabolique\Chronic metabolic disorder\Osteopetrosis with renal tubular acidosis
\Disease\trouble métabolique\maladie métabolique de l'os\Osteopetrosis with renal tubular acidosis
\Disease\trouble métabolique\troubles du métabolisme des minéraux (trouble)\Disorder of phosphate, calcium and vitamin D metabolism\Osteopetrosis with renal tubular acidosis
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Disease\maladie chronique\Chronic metabolic disorder\Osteopetrosis with renal tubular acidosis
\Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Disease\trouble du développement\Developmental hereditary disorder\Osteopetrosis\Osteopetrosis with renal tubular acidosis
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopetrosis\Osteopetrosis with renal tubular acidosis

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteopetrosis with renal tubular acidosis	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
Osteopetrosis with renal tubular acidosis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteopetrosis with renal tubular acidosis	a pour interprétation (attribut)	au-dessous de l'étendue de référence	true	Inferred relationship	Some	2
Osteopetrosis with renal tubular acidosis	est un(e) (attribut)	Chronic metabolic disorder	true	Inferred relationship	Some
Osteopetrosis with renal tubular acidosis	interprète (attribut)	Osteoclast turnover rate (observable entity)	true	Inferred relationship	Some	2
Osteopetrosis with renal tubular acidosis	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	3
Osteopetrosis with renal tubular acidosis	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Osteopetrosis with renal tubular acidosis	est un(e) (attribut)	maladie métabolique de l'os	true	Inferred relationship	Some
Osteopetrosis with renal tubular acidosis	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Osteopetrosis with renal tubular acidosis	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Osteopetrosis with renal tubular acidosis	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Osteopetrosis with renal tubular acidosis	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	2
Osteopetrosis with renal tubular acidosis	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Osteopetrosis with renal tubular acidosis	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Osteopetrosis with renal tubular acidosis	survenue (attribut)	congénital	false	Inferred relationship	Some
Osteopetrosis with renal tubular acidosis	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Osteopetrosis with renal tubular acidosis	est un(e) (attribut)	Osteopetrosis	true	Inferred relationship	Some
Osteopetrosis with renal tubular acidosis	est un(e) (attribut)	Disorder of phosphate, calcium and vitamin D metabolism	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378287015	Carbonic anhydrase II deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378288013	CA2 - Osteopetrosis with renal tubular acidosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
378289017	Osteopetrosis with renal tubular acidosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
561321000241115	ostéopétrose avec acidose tubulaire rénale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
644970016	Osteopetrosis with renal tubular acidosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
947541000172115	acidose tubulaire rénale mixte	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
954761000172116	ostéopétrose avec acidose tubulaire rénale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)