RNF13-related severe early-onset epileptic encephalopathy   1222659003

SNOMED CT code


SNOMED code1222659003
nameRNF13-related severe early-onset epileptic encephalopathy
statusactive
date introduced2022-05-31
fully specified name(s)Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder)
synonyms
  • Ring finger protein 13-related severe early-onset epileptic encephalopathy
  • RNF13-related severe early-onset epileptic encephalopathy
attributes - group2
InterpretsBirth head circumference   169876006
Has interpretationBelow reference range   281300000
attributes - group1
OccurrenceCongenital   255399007
Finding siteHead structure   69536005
Associated morphologyCongenital smallness   41086002
Pathological processPathological developmental process   308490002
attributes - group4
Finding siteBrain structure   12738006
Pathological processPathological developmental process   308490002
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Congenital microcephaly   1148758003
            RNF13-related severe early-onset epileptic encephalopathy   1222659003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Neurodevelopmental disorder   700364009
          Developmental and epileptic encephalopathy   1275631007
            RNF13-related severe early-onset epileptic encephalopathy   1222659003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          RNF13-related severe early-onset epileptic encephalopathy   1222659003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        RNF13-related severe early-onset epileptic encephalopathy   1222659003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              RNF13-related severe early-onset epileptic encephalopathy   1222659003

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