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

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

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

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

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

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

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

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

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

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

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 (core metadata concept) SNOMED CT core

3472804017 Autism spectrum disorder, epilepsy, arthrogryposis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3472805016 SLC35A3-CDG - solute carrier family 35 member A3 congenital disorder of glycosylation en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3472806015 A form of congenital disorders of N-linked glycosylation with characteristics of distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retro-micrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21). 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
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Is a	Distal arthrogryposis syndrome	true	Inferred relationship	Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Is a	Epilepsy	true	Inferred relationship	Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Is a	Disorder of glycoprotein metabolism	true	Inferred relationship	Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Is a	Autisme	false	Inferred relationship	Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Associated morphology	Contracture	false	Inferred relationship	Some	3
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	3
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Finding site	Cerebrum	true	Inferred relationship	Some	4
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Interprets	Range of joint movement	true	Inferred relationship	Some	3
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	3
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Finding site	Structure of joint region	true	Inferred relationship	Some	1
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Associated morphology	Contracture	true	Inferred relationship	Some	1
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Is a	Inherited arthrogryposis	true	Inferred relationship	Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Is a	Pervasive developmental disorder (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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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 (core metadata concept)	SNOMED CT core
3472804017	Autism spectrum disorder, epilepsy, arthrogryposis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3472805016	SLC35A3-CDG - solute carrier family 35 member A3 congenital disorder of glycosylation	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3472806015	A form of congenital disorders of N-linked glycosylation with characteristics of distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retro-micrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core