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

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

\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)

\Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)
\Finding of movement (finding)\Motor dysfunction\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)

\Neurological finding\Motor nervous system finding\Motor dysfunction\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)
\Disease\Mental disorder\Chronic mental disorder\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)
\Disease\Chronic disease\Chronic mental disorder\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)

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

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

4204351000052114 autosomalt recessivt syndrom med intellektuell funktionsnedsättning och kontraktur i flera leder sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	Is a	Motor dysfunction	true	Inferred relationship	Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	Is a	Chronic mental disorder	true	Inferred relationship	Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	Is a	Contracture of joint	false	Inferred relationship	Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	1
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	Is a	Chronic arthropathy	false	Inferred relationship	Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	Associated morphology	Contracture	true	Inferred relationship	Some	1
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	Finding site	Structure of joint region	true	Inferred relationship	Some	1
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	Interprets	Range of joint movement	true	Inferred relationship	Some	2
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	2
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	Is a	Contracture of multiple joints	true	Inferred relationship	Some
Autosomal recessive intellectual disability, motor dysfunction, multiple joint contracture syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

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
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
4204351000052114	autosomalt recessivt syndrom med intellektuell funktionsnedsättning och kontraktur i flera leder	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)