RAB18 deficiency   772225005

SNOMED CT code


SNOMED code772225005
nameRAB18 deficiency
statusactive
date introduced2019-01-31
fully specified name(s)RAB18, member RAS oncogene family deficiency (disorder)
synonyms
  • RAB18, member RAS oncogene family deficiency
  • RAB18 deficiency
attributes - group1
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding siteEye structure   81745001
attributes - group2
Pathological processPathological developmental process   308490002
Finding siteReproductive anatomical structure   245500007
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteBrain structure   12738006
OccurrenceCongenital   255399007
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Congenital anomaly of eye   19416009
  • Genitourinary congenital anomalies   287085006
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of nervous system   363235000
  • Reproductive system hereditary disorder   363290007
  • Hereditary disorder of the visual system   363343008
  • Congenital anomaly of brain   57148006
  • Multiple system malformation syndrome   82354003
  • Autosomal recessive hereditary disorder   85995004
children
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
          RAB18 deficiency   772225005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Congenital anomaly of visual system   127329003
          Congenital anomaly of eye   19416009
            RAB18 deficiency   772225005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of the genitourinary system   42030000
          Genitourinary congenital anomalies   287085006
            RAB18 deficiency   772225005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          RAB18 deficiency   772225005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            RAB18 deficiency   772225005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Reproductive system hereditary disorder   363290007
            RAB18 deficiency   772225005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          RAB18 deficiency   772225005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Central nervous system finding   246556002
      Disorder of the central nervous system   23853001
        Congenital anomaly of central nervous system   128124001
          Congenital anomaly of brain   57148006
            RAB18 deficiency   772225005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              RAB18 deficiency   772225005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              RAB18 deficiency   772225005

ancestors
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