722456001: Intellectual disability, developmental delay, contracture syndrome (disorder)

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

\Deformity (finding)\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Deformity (finding)\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Intellectual disability, developmental delay, 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\Arthrogryposis\Arthrogryposis multiplex congenita\Intellectual disability, developmental delay, 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\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\...

\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome (disorder)

\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Intellectual disability, developmental delay, contracture syndrome (disorder)

\Muscle finding\Disorder of muscle\...

\Degenerative disorder of muscle\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disorder of skeletal muscle\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Musculoskeletal finding\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Musculoskeletal finding\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome (disorder)

\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of muscle\Degenerative disorder of muscle\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3332212014 Intellectual disability, developmental delay, contracture syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3332213016 Intellectual disability, developmental delay, contracture syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3332214010 Foot contracture, muscle atrophy, oculomotor apraxia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3332215011 Wieacker Wolff syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402950014 Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures and intellectual disability. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5402951013 Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterised by severe contractures and intellectual disability. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Intellectual disability, developmental delay, contracture syndrome (disorder)	Is a	Inherited arthrogryposis	true	Inferred relationship	Some
Intellectual disability, developmental delay, contracture syndrome (disorder)	Is a	Amyoplasia congenita disruptive sequence	false	Inferred relationship	Some
Intellectual disability, developmental delay, contracture syndrome (disorder)	Is a	Muscle atrophy	true	Inferred relationship	Some
Intellectual disability, developmental delay, contracture syndrome (disorder)	Is a	Mental retardation	false	Inferred relationship	Some
Intellectual disability, developmental delay, contracture syndrome (disorder)	Is a	X-linked hereditary disease	false	Inferred relationship	Some
Intellectual disability, developmental delay, contracture syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Intellectual disability, developmental delay, contracture syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Intellectual disability, developmental delay, contracture syndrome (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	4
Intellectual disability, developmental delay, contracture syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Intellectual disability, developmental delay, contracture syndrome (disorder)	Associated morphology	Atrophy	false	Inferred relationship	Some	3
Intellectual disability, developmental delay, contracture syndrome (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	3
Intellectual disability, developmental delay, contracture syndrome (disorder)	Associated morphology	Contracture	false	Inferred relationship	Some	4
Intellectual disability, developmental delay, contracture syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	5
Intellectual disability, developmental delay, contracture syndrome (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	5
Intellectual disability, developmental delay, contracture syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Intellectual disability, developmental delay, contracture syndrome (disorder)	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Intellectual disability, developmental delay, contracture syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Intellectual disability, developmental delay, contracture syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Intellectual disability, developmental delay, contracture syndrome (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Intellectual disability, developmental delay, contracture syndrome (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	2
Intellectual disability, developmental delay, contracture syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Intellectual disability, developmental delay, contracture syndrome (disorder)	Associated morphology	Atrophy	true	Inferred relationship	Some	1
Intellectual disability, developmental delay, contracture syndrome (disorder)	Associated morphology	Contracture	true	Inferred relationship	Some	2
Intellectual disability, developmental delay, contracture syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Intellectual disability, developmental delay, contracture syndrome (disorder)	Interprets	Range of joint movement	true	Inferred relationship	Some	3
Intellectual disability, developmental delay, contracture syndrome (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	3
Intellectual disability, developmental delay, contracture syndrome (disorder)	Finding site	Structure of joint region	true	Inferred relationship	Some	2
Intellectual disability, developmental delay, contracture syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Intellectual disability, developmental delay, contracture syndrome (disorder)	Is a	X-linked recessive hereditary disease	true	Inferred relationship	Some
Intellectual disability, developmental delay, contracture syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Intellectual disability, developmental delay, contracture syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Intellectual disability, developmental delay, contracture syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
Intellectual disability, developmental delay, contracture syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Intellectual disability, developmental delay, contracture syndrome (disorder)	Is a	Arthrogryposis multiplex congenita	true	Inferred relationship	Some
Intellectual disability, developmental delay, contracture syndrome (disorder)	Finding site	Joint structure of multiple body sites (body structure)	true	Inferred relationship	Some	6
Intellectual disability, developmental delay, contracture syndrome (disorder)	Associated morphology	Contracture	true	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3332212014	Intellectual disability, developmental delay, contracture syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332213016	Intellectual disability, developmental delay, contracture syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332214010	Foot contracture, muscle atrophy, oculomotor apraxia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3332215011	Wieacker Wolff syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402950014	Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterized by severe contractures and intellectual disability.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402951013	Intellectual disability-developmental delay-contractures syndrome, formerly known as Wieacker-Wolff syndrome, is a severe X-linked recessive neurodevelopmental disorder characterised by severe contractures and intellectual disability.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core