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733623005: 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 Reference Sets
3472803011 Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3472804017 Autism spectrum disorder, epilepsy, arthrogryposis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
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 GB English: Acceptable (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)

0 descendants.

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 (disorder) true Inferred relationship Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder) Is a Autistic disorder (disorder) true 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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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