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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Deformity (finding)\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Deformity (finding)\Congenital deformity (disorder)\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\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\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\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\Seizure disorder\Epilepsy\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Musculoskeletal finding (finding)\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\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\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\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\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\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 (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\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\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of glycoprotein metabolism\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\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 (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\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 (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\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Developmental mental disorder\Disorder of psychological development\Pervasive developmental disorder (disorder)\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Inherited arthrogryposis\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.\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
5403835010	A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, 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 and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403836011	A form of congenital disorders of N-linked glycosylation characterised by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, 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 and repetitive behaviour), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
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
5403835010	A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, 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 and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403836011	A form of congenital disorders of N-linked glycosylation characterised by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, 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 and repetitive behaviour), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3451121001000115	Autismus-Spektrum-Störung-Epilepsie-Arthrogrypose-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
915181000172116	syndrome d'arthrogrypose-épilepsie-trouble du spectre de l'autisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
949331000172114	SLC35A3-CDG - syndrome d'arthrogrypose, épilepsie, trouble du spectre de l'autisme	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
915181000172116	syndrome d'arthrogrypose-épilepsie-trouble du spectre de l'autisme	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
949331000172114	SLC35A3-CDG - syndrome d'arthrogrypose, épilepsie, trouble du spectre de l'autisme	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3451121001000115	Autismus-Spektrum-Störung-Epilepsie-Arthrogrypose-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

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