Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation   718759003

SNOMED CT code


SNOMED code718759003
nameLissencephaly due to TUBA1A (tubulin alpha 1A) mutation
statusactive
date introduced2017-01-31
fully specified name(s)Lissencephaly due to tubulin alpha 1A mutation (disorder)
synonyms
  • Lissencephaly due to tubulin alpha 1A mutation
  • Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteBrain structure   12738006
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation   718759003

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
          Disorder of neuronal migration and differentiation   253146009
            Lissencephaly   204036008
              Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation   718759003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation   718759003

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
            Lissencephaly due to TUBA1A (tubulin alpha 1A) mutation   718759003

ancestors
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