Alkaline ceramidase 3 deficiency   1237515001

SNOMED CT code


SNOMED code1237515001
nameAlkaline ceramidase 3 deficiency
statusactive
date introduced2022-09-30
fully specified name(s)Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder)
synonyms
  • Alkaline ceramidase 3 deficiency
  • ACER3-related early childhood-onset progressive leukodystrophy
  • Leukodystrophy due to alkaline ceramidase 3 deficiency
  • ACER3-related early childhood-onset progressive leucodystrophy
  • Leucodystrophy due to alkaline ceramidase 3 deficiency
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
parents
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
            Alkaline ceramidase 3 deficiency   1237515001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Hereditary metabolic disease   1821000146108
          Alkaline ceramidase 3 deficiency   1237515001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Neurological lesion   299735001
      Leukodystrophy   192781003
        Alkaline ceramidase 3 deficiency   1237515001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Alkaline ceramidase 3 deficiency   1237515001

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