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

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Intellectual disability, developmental delay, contracture syndrome
\Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Intellectual disability, developmental delay, contracture syndrome
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Intellectual disability, developmental delay, contracture syndrome

\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Intellectual disability, developmental delay, contracture syndrome
\Finding of movement\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
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Intellectual disability, developmental delay, contracture syndrome
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome

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

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

\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Intellectual disability, developmental delay, contracture syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Intellectual disability, developmental delay, contracture syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Intellectual disability, developmental delay, contracture syndrome

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\...

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

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

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Intellectual disability, developmental delay, contracture syndrome

\Degenerative disorder of musculoskeletal system\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome

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

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Intellectual disability, developmental delay, contracture syndrome
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, developmental delay, contracture syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome
\Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\X-linked recessive hereditary disease\Intellectual disability, developmental delay, contracture syndrome
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Intellectual disability, developmental delay, contracture syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Intellectual disability, developmental delay, contracture syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome
\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
\Disease\Disorder of skeletal AND/OR smooth muscle\Degenerative disorder of muscle\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Amyoplasia congenita disruptive sequence\Intellectual disability, developmental delay, contracture syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Intellectual disability, developmental delay, contracture syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome
\Disease\Congenital disease\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
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Intellectual disability, developmental delay, contracture syndrome
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Intellectual disability, developmental delay, contracture syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscle atrophy\Intellectual disability, developmental delay, contracture syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Intellectual disability, developmental delay, contracture syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Amyoplasia congenita disruptive sequence\Intellectual disability, developmental delay, contracture syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Intellectual disability, developmental delay, contracture syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Intellectual disability, developmental delay, contracture syndrome
\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

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

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 SNOMED CT core module

3332213016 Intellectual disability, developmental delay, contracture syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3332214010 Foot contracture, muscle atrophy, oculomotor apraxia syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3332215011 Wieacker Wolff syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

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

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
3332212014	Intellectual disability, developmental delay, contracture syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3332213016	Intellectual disability, developmental delay, contracture syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3332214010	Foot contracture, muscle atrophy, oculomotor apraxia syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3332215011	Wieacker Wolff syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module