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\Encephalopathy\Seizure disorder\Epilepsy\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\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\Encephalopathy\Seizure disorder\Epilepsy\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
• \Disorder of head\Encephalopathy\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\Glycoprotein metabolism disorder\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\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Glycoprotein metabolism disorder\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 illness\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder\Autistic disorder\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Autism spectrum disorder, epilepsy, arthrogryposis syndrome
• \Disease\Congenital disease\Inborn error of metabolism\Glycoprotein metabolism disorder\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 anomaly\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome\Autism spectrum disorder, epilepsy, arthrogryposis syndrome

Status: current, Primitive. 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	Case insensitive	SNOMED CT core
3472804017	Autism spectrum disorder, epilepsy, arthrogryposis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3472805016	SLC35A3-CDG - solute carrier family 35 member A3 congenital disorder of glycosylation	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Mental health disorder reference set

Problem/Diagnosis reference set

Unit of use quantity reference set

Description inactivation indicator reference set

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