Autism spectrum disorder, epilepsy, arthrogryposis syndrome   733623005

SNOMED CT code


SNOMED code733623005
nameAutism spectrum disorder, epilepsy, arthrogryposis syndrome
statusactive
date introduced2017-07-31
fully specified name(s)Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
synonyms
  • Autism spectrum disorder, epilepsy, arthrogryposis syndrome
  • SLC35A3-CDG - solute carrier family 35 member A3 congenital disorder of glycosylation
attributes - group3
InterpretsRange of joint movement   364564000
Has interpretationDecreased   1250004
attributes - group1
Finding siteStructure of joint region   785818007
Pathological processPathological developmental process   308490002
Associated morphologyContracture   57048009
OccurrenceCongenital   255399007
attributes - group4
OccurrenceCongenital   255399007
Finding siteCerebrum   83678007
parents
  • Inherited metabolic disorder of nervous system   128190004
  • Disorder of glycoprotein metabolism   238045003
  • Distal arthrogryposis syndrome   24269006
  • Inherited arthrogryposis   28204005
  • Pervasive developmental disorder   35919005
  • Epilepsy   84757009
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Autism spectrum disorder, epilepsy, arthrogryposis syndrome   733623005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Disorder of glycoprotein metabolism   238045003
            Autism spectrum disorder, epilepsy, arthrogryposis syndrome   733623005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Deformity   417893002
      Congenital deformity   276655000
        Arthrogryposis   111246005
          Distal arthrogryposis syndrome   24269006
            Autism spectrum disorder, epilepsy, arthrogryposis syndrome   733623005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Inherited arthrogryposis   28204005
            Autism spectrum disorder, epilepsy, arthrogryposis syndrome   733623005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Mental disorder   74732009
        Developmental mental disorder   129104009
          Disorder of psychological development   192562009
            Pervasive developmental disorder   35919005
              Autism spectrum disorder, epilepsy, arthrogryposis syndrome   733623005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Seizure   91175000
          Seizure disorder   128613002
            Epilepsy   84757009
              Autism spectrum disorder, epilepsy, arthrogryposis syndrome   733623005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Autism spectrum disorder, epilepsy, arthrogryposis syndrome   733623005

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