Enamel-renal syndrome   109477002

SNOMED CT code


SNOMED code109477002
nameEnamel-renal syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Enamel-renal syndrome (disorder)
synonyms
  • Enamel-renal syndrome
  • Amelogenesis imperfecta, nephrocalcinosis and impaired renal concentration
  • Enamel renal syndrome
  • Amelogenesis imperfecta and nephrocalcinosis
  • McGibbon Lubinsky syndrome
attributes - group3
Finding siteEnamel structure   76993005
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group1
Associated morphologyPathologic calcification   18115005
Finding siteStructure of parenchyma of kidney   29704000
attributes - group4
InterpretsRenal function   11953005
Has interpretationImpaired   260379002
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Viscus structure finding   406123005
      Abdominal organ finding   249561001
        Kidney finding   249578005
          Kidney disease   90708001
            Hereditary nephropathy   367591000119105
              Enamel-renal syndrome   109477002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Finding of renal function   1148582006
        Renal impairment   236423003
          Renal failure syndrome   42399005
            Enamel-renal syndrome   109477002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Metabolic renal disease   106000008
          Nephrocalcinosis   48638002
            Enamel-renal syndrome   109477002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Amelogenesis imperfecta   78494001
            Enamel-renal syndrome   109477002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Enamel-renal syndrome   109477002

ancestors
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