Fabry's disease   16652001

SNOMED CT code


SNOMED code16652001
nameFabry's disease
statusactive
date introduced2002-01-31
fully specified name(s)Fabry's disease (disorder)
synonyms
  • Fabry's disease
  • Hereditary dystopic lipidosis
  • Thesaurismosis lipoidica
  • Ceramide trihexosidase deficiency
  • Lactosyl ceramidosis
  • Ceramide lactoside lipidosis
  • alpha-Galactosidase-A deficiency
  • Angiokeratoma corporis diffusum universale
  • GLA deficiency
  • Thesaurismosis hereditaria
  • Cardiovasorenal syndrome
  • Ruiter-Pompen syndrome
  • Anderson-Fabry disease
  • Sweeley-Klionsky disease
  • Alpha-galactosidase A deficiency
  • Angiokeratoma corporis diffusum
  • Fabry disease
attributes - group1
Finding siteBlood vessel structure of skin   397018003
Associated morphologyAngiokeratoma   26810009
attributes - group4
Finding siteCerebrovascular system structure   28661005
attributes - group5
Finding siteNervous system structure   25087005
attributes - group2
OccurrenceCongenital   255399007
attributes - group3
Finding siteKidney structure   64033007
parents
children[EDTA] Fabry's disease associated with renal failure   274600000  removed: 2009-01-31
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Metabolic renal disease   106000008
          Fabry's disease   16652001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of lipoprotein AND/OR lipid metabolism   48286001
          Disorder of lipid storage and metabolism   238017009
            Lipid storage disease   10741005
              Fabry's disease   16652001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            Fabry's disease   16652001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              Fabry's disease   16652001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of lipoprotein AND/OR lipid metabolism   48286001
          Disorder of lipid storage and metabolism   238017009
            Sphingolipidosis   238028008
              Fabry's disease   16652001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mass of body structure   300848003
      Mass of body region   300862005
        Hemangioma of skin and subcutaneous tissue   271481007
          Hemangioma of skin   93471006
            Angiokeratoma of skin   254788004
              Fabry's disease   16652001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Fabry's disease   16652001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Fabry's disease   16652001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Viscus structure finding   406123005
      Abdominal organ finding   249561001
        Kidney finding   249578005
          Kidney disease   90708001
            Hereditary nephropathy   367591000119105
              Fabry's disease   16652001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cerebrovascular disease   62914000
          Fabry's disease   16652001

ancestors
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