733623005: Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Autism spectrum disorder, epilepsy, arthrogryposis 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\Distal arthrogryposis syndrome\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Autism spectrum disorder, epilepsy, arthrogryposis syndrome

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Autism spectrum disorder, epilepsy, arthrogryposis syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Autism spectrum disorder, epilepsy, arthrogryposis syndrome

\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Autism spectrum disorder, epilepsy, arthrogryposis syndrome

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Autism spectrum disorder, epilepsy, arthrogryposis syndrome

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Distal arthrogryposis syndrome\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Seizure disorder\Epilepsy\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Disease\Disorder of head\Disorder of brain\Seizure disorder\Epilepsy\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Disease\Mental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder\Autistic disorder\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Disease\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder\Autistic disorder\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Autism spectrum disorder, epilepsy, arthrogryposis syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3472803011 Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3472804017 Autism spectrum disorder, epilepsy, arthrogryposis syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3472805016 SLC35A3-CDG - solute carrier family 35 member A3 congenital disorder of glycosylation en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Is a	Distal arthrogryposis syndrome	true	Inferred relationship	Existential restriction modifier
Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Is a	Epilepsy	true	Inferred relationship	Existential restriction modifier
Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Is a	Disorder of glycoprotein metabolism	true	Inferred relationship	Existential restriction modifier
Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Is a	Autistic disorder	true	Inferred relationship	Existential restriction modifier
Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Has definitional manifestation	Seizure	false	Inferred relationship	Existential restriction modifier
Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Associated morphology	Contracture	false	Inferred relationship	Existential restriction modifier	3
Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	3
Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Finding site	Structure of cerebrum	true	Inferred relationship	Existential restriction modifier	4
Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Interprets	Range of joint movement	true	Inferred relationship	Existential restriction modifier	3
Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	3
Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Finding site	Structure of joint region	true	Inferred relationship	Existential restriction modifier	1
Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier	1
Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3472803011	Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3472804017	Autism spectrum disorder, epilepsy, arthrogryposis syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3472805016	SLC35A3-CDG - solute carrier family 35 member A3 congenital disorder of glycosylation	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module