770901001: Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Deformity (finding)\Contracture of joint\Contracture of multiple joints\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement (finding)\Contracture of joint\Contracture of multiple joints\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Finding of movement\Motor dysfunction\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Contracture of multiple joints\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Chronic arthropathy (disorder)\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Polyarthropathy\Contracture of multiple joints\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Musculoskeletal finding (finding)\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Chronic arthropathy (disorder)\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Chronic arthropathy (disorder)\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Neurological finding\Motor nervous system finding (finding)\Motor dysfunction\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Disease\Disorder of joint region\Arthropathy\Lesion of joint\Contracture of multiple joints\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Disease\Disorder of joint region\Arthropathy\Chronic arthropathy (disorder)\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Contracture of multiple joints\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Chronic arthropathy (disorder)\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Chronic arthropathy (disorder)\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy (disorder)\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3703342011	Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3703343018	Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3703344012	Recessive intellectual disability, motor dysfunction, multiple joint contractures syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404951012	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404952017	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disability disorder characterised by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3703342011	Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3703343018	Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3703344012	Recessive intellectual disability, motor dysfunction, multiple joint contractures syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3703345013	A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability, progressive postnatal multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures, which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404951012	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404952017	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disability disorder characterised by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3387491001000119	Intelligenzminderung - motorische Dysfunktion - multiple Gelenkkontrakturen, rezessiv	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5758311000241112	syndrome autosomique récessif de déficience intellectuelle, dysfonctionnement moteur et raideurs articulaires multiples	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5758311000241112	syndrome autosomique récessif de déficience intellectuelle, dysfonctionnement moteur et raideurs articulaires multiples	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3387491001000119	Intelligenzminderung - motorische Dysfunktion - multiple Gelenkkontrakturen, rezessiv	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start