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254099008: Desbuquois syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos d'une région de la tête et du cou\Injury of head and/or neck (disorder)\Injury of head\Injury of face\Desbuquois syndrome
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Desbuquois syndrome
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Injury of face\Desbuquois syndrome
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Desbuquois syndrome
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Disorder of face (disorder)\Injury of face\Desbuquois syndrome
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Desbuquois syndrome
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Injury of head\Injury of face\Desbuquois syndrome

\Disease\Disorder of joint region\Arthropathy (disorder)\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Desbuquois syndrome
\Disease\Disorder of joint region\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Desbuquois syndrome
\Disease\Disorder of joint region\Arthropathy (disorder)\arthropathie chronique\Multiple dislocations with dysplasia\Desbuquois syndrome
\Disease\Disorder of joint region\Arthropathy (disorder)\polyarthropathie\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Desbuquois syndrome
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Desbuquois syndrome
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Desbuquois syndrome
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Desbuquois syndrome
\Disease\lésion traumatique ou non traumatique (trouble)\Nontraumatic injury (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Desbuquois syndrome
\Disease\lésion traumatique ou non traumatique (trouble)\Injury of head and/or neck (disorder)\Injury of head\Injury of face\Desbuquois syndrome
\Disease\lésion traumatique ou non traumatique (trouble)\lésion du système musculosquelettique (trouble)\Bone injury\Desbuquois syndrome
\Disease\lésion traumatique ou non traumatique (trouble)\lésion du système musculosquelettique (trouble)\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Desbuquois syndrome
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Desbuquois syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Desbuquois syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\arthropathie chronique\Multiple dislocations with dysplasia\Desbuquois syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\lésion du système musculosquelettique (trouble)\Bone injury\Desbuquois syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\lésion du système musculosquelettique (trouble)\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Desbuquois syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Desbuquois syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Desbuquois syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\arthropathie chronique\Multiple dislocations with dysplasia\Desbuquois syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Arthropathy (disorder)\polyarthropathie\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Desbuquois syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia\Desbuquois syndrome
\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\Desbuquois syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Bone injury\Desbuquois syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia\Desbuquois syndrome
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Desbuquois syndrome
\Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Desbuquois syndrome
\Disease\affection de la tête\Disorder of face (disorder)\Injury of face\Desbuquois syndrome
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Desbuquois syndrome
\Disease\affection de la tête\Injury of head\Injury of face\Desbuquois syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Desbuquois syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Desbuquois syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia\Desbuquois syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Desbuquois syndrome
\Disease\maladie chronique\maladie chronique de l'appareil locomoteur\arthropathie chronique\Multiple dislocations with dysplasia\Desbuquois syndrome
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Desbuquois syndrome
\Disease\trouble du développement\Developmental hereditary disorder\Desbuquois syndrome
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Desbuquois syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Desbuquois syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia\Desbuquois syndrome
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Desbuquois syndrome

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
Desbuquois syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Desbuquois syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Desbuquois syndrome	localisation d'une constatation (attribut)	Joint structure of multiple body sites (body structure)	true	Inferred relationship	Some	2
Desbuquois syndrome	morphologie associée (attribut)	Dislocation	true	Inferred relationship	Some	2
Desbuquois syndrome	est un(e) (attribut)	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Desbuquois syndrome	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	3
Desbuquois syndrome	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Desbuquois syndrome	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Desbuquois syndrome	est un(e) (attribut)	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Desbuquois syndrome	survenue (attribut)	congénital	true	Inferred relationship	Some	4
Desbuquois syndrome	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	4
Desbuquois syndrome	localisation d'une constatation (attribut)	face	true	Inferred relationship	Some	4
Desbuquois syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Desbuquois syndrome	Due to	Spontaneous event (event)	true	Inferred relationship	Some	5
Desbuquois syndrome	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
Desbuquois syndrome	morphologie associée (attribut)	Damage	false	Inferred relationship	Some	6
Desbuquois syndrome	est un(e) (attribut)	Injury of face	true	Inferred relationship	Some
Desbuquois syndrome	est un(e) (attribut)	Bone injury	true	Inferred relationship	Some
Desbuquois syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Desbuquois syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Desbuquois syndrome	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	1
Desbuquois syndrome	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Desbuquois syndrome	localisation d'une constatation (attribut)	Skeletal system structure	false	Inferred relationship	Some	1
Desbuquois syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Desbuquois syndrome	localisation d'une constatation (attribut)	structure osseuse	false	Inferred relationship	Some	2
Desbuquois syndrome	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Desbuquois syndrome	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
Desbuquois syndrome	survenue (attribut)	congénital	false	Inferred relationship	Some
Desbuquois syndrome	est un(e) (attribut)	Multiple dislocations with dysplasia	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
1012231000172110	DBQD - Desbuquois dysplasia	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
378258016	Desbuquois syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3789864015	Desbuquois dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
561281000241112	syndrome de Desbuquois (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
644944017	Desbuquois syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
976181000172119	syndrome de Desbuquois	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)