PURA syndrome   768473009

SNOMED CT code


SNOMED code768473009
namePURA syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Purine rich element binding protein A syndrome (disorder)
synonyms
  • Purine rich element binding protein A syndrome
  • PURA-related neurodevelopmental disorder
  • PURA (purine rich element binding protein A) syndrome
  • PURA syndrome
  • PURA-related severe neonatal hypotonia, seizure, encephalopathy syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteBrain structure   12738006
attributes - group2
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group3
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          PURA syndrome   768473009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Finding of brain   299718000
        Seizure   91175000
          Seizure disorder   128613002
            PURA syndrome   768473009

ancestors
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