4H leukodystrophy   1208933000

SNOMED CT code


SNOMED code1208933000
name4H leukodystrophy
statusactive
date introduced2022-03-31
fully specified name(s)4H leukodystrophy (disorder)
synonyms
  • 4H leucodystrophy
  • 4H leukodystrophy
  • POLR-related leucodystrophy
  • POLR-related leukodystrophy
attributes - group1
Finding siteMyelinated nerve fiber structure   54115001
Associated morphologyMyelin sheath alteration   125495003
attributes - group2
Finding siteWhite matter structure of brain and spinal cord   389080008
Associated morphologyDystrophy   4720007
attributes - group4
Finding siteStructure of distal part of pituitary   52618001
attributes - group5
Finding siteGonadal endocrine structure   304041004
attributes - group3
Finding siteTooth structure   38199008
Pathological processPathological developmental process   308490002
parents
  • Hereditary degenerative disease of central nervous system   106018006
  • Hereditary disorder of tooth   1148766007
  • Leukodystrophy   192781003
  • Hypogonadotropic hypogonadism   33927004
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of endocrine system   363104002
  • Reproductive system hereditary disorder   363290007
  • Disorder of tooth development   371136004
  • Autosomal recessive hereditary disorder   85995004
children
  • Hypomyelination, hypogonadotropic hypogonadism, hypodontia syndrome   721846006
  • Leukoencephalopathy, ataxia, hypodontia, hypomyelination syndrome   764095005
  • Odontoleukodystrophy   722064003
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disease of the central nervous system   80690008
          Hereditary degenerative disease of central nervous system   106018006
            4H leukodystrophy   1208933000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Hereditary disorder of tooth   1148766007
            4H leukodystrophy   1208933000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Neurological lesion   299735001
      Leukodystrophy   192781003
        4H leukodystrophy   1208933000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of endocrine system   362969004
          Disorder of pituitary gland   399244003
            Disorder of anterior pituitary   51742006
              Hypogonadotropic hypogonadism   33927004
                4H leukodystrophy   1208933000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          4H leukodystrophy   1208933000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of endocrine system   362969004
          Hereditary disorder of endocrine system   363104002
            4H leukodystrophy   1208933000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Hereditary disorder by system   363137000
          Reproductive system hereditary disorder   363290007
            4H leukodystrophy   1208933000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of tooth development   371136004
          4H leukodystrophy   1208933000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              4H leukodystrophy   1208933000

ancestors
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