FHIR © HL7.org | Server Home | FHIR Server FHIR Server 3.7.4-SNAPSHOT | FHIR Version n/a User: [n/a]

254099008: Desbuquois syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\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
\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Injury of face\Desbuquois syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Desbuquois syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Injury of face\Desbuquois syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Desbuquois syndrome
\Head finding (finding)\Disorder of head (disorder)\Injury of head\Injury of face\Desbuquois syndrome

\Disease\Disorder of joint region\Arthropathy\Joint injury (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Desbuquois syndrome
\Disease\Disorder of joint region\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Desbuquois syndrome
\Disease\Disorder of joint region\Arthropathy\Chronic arthropathy (disorder)\Multiple dislocations with dysplasia (disorder)\Desbuquois syndrome
\Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Desbuquois syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Desbuquois syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Desbuquois syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Desbuquois syndrome
\Disease\Traumatic or non-traumatic injury (disorder)\Nontraumatic injury\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Desbuquois syndrome
\Disease\Traumatic or non-traumatic injury (disorder)\Injury of head and/or neck\Injury of head\Injury of face\Desbuquois syndrome
\Disease\Traumatic or non-traumatic injury (disorder)\Injury of musculoskeletal system\Bone injury\Desbuquois syndrome
\Disease\Traumatic or non-traumatic injury (disorder)\Injury of musculoskeletal system\Joint injury (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Desbuquois syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Desbuquois syndrome
\Disease\Disorder of foetus and/or newborn\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\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Desbuquois syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Desbuquois syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Desbuquois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Desbuquois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Chronic arthropathy (disorder)\Multiple dislocations with dysplasia (disorder)\Desbuquois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Bone injury\Desbuquois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Joint injury (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Desbuquois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Joint injury (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Desbuquois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Desbuquois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Chronic arthropathy (disorder)\Multiple dislocations with dysplasia (disorder)\Desbuquois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Desbuquois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Desbuquois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Desbuquois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Bone injury\Desbuquois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Desbuquois syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Desbuquois syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Desbuquois syndrome
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Injury of face\Desbuquois syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Desbuquois syndrome
\Disease\Disorder of head (disorder)\Injury of head\Injury of face\Desbuquois syndrome
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy (disorder)\Multiple dislocations with dysplasia (disorder)\Desbuquois syndrome
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Desbuquois syndrome
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Desbuquois syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Desbuquois syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Desbuquois syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Desbuquois syndrome
\Disease\Developmental disorder (disorder)\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	Is a	Multiple dislocations with dysplasia (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Desbuquois syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Desbuquois syndrome	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Desbuquois syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Desbuquois syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Desbuquois syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Desbuquois syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Desbuquois syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Desbuquois syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Desbuquois syndrome	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Desbuquois syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Desbuquois syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Desbuquois syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Desbuquois syndrome	Finding site	Joint structure of multiple body sites (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Desbuquois syndrome	Associated morphology	Dislocation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Desbuquois syndrome	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Desbuquois syndrome	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Desbuquois syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Desbuquois syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Desbuquois syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Desbuquois syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Desbuquois syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Desbuquois syndrome	Finding site	Face structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Desbuquois syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Desbuquois syndrome	Due to	Spontaneous event (event)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Desbuquois syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Desbuquois syndrome	Associated morphology	Damage	false	Inferred relationship	Existential restriction modifier (core metadata concept)	6
Desbuquois syndrome	Is a	Injury of face	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Desbuquois syndrome	Is a	Bone injury	true	Inferred relationship	Existential restriction modifier (core metadata concept)

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
378258016	Desbuquois syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
644944017	Desbuquois syndrome (disorder)	en	Fully specified name	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
378258016	Desbuquois syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
644944017	Desbuquois syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
644944017	Desbuquois syndrome (disorder)	en	Fully specified name	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
3444701001000114	Desbuquois-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
976181000172119	syndrome de Desbuquois	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1012231000172110	DBQD - Desbuquois dysplasia	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
976181000172119	syndrome de Desbuquois	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1012231000172110	DBQD - Desbuquois dysplasia	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3444701001000114	Desbuquois-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module