Lowe syndrome   79385002

SNOMED CT code


SNOMED code79385002
nameLowe syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Lowe syndrome (disorder)
synonyms
  • Oculocerebrorenal dystrophy
  • Cerebro-oculorenal dystrophy
  • Lowe disease
  • Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency
  • Lowe syndrome
  • Oculocerebrorenal syndrome
  • Renal-oculocerebrodystrophy
  • Lowe-Terrey-MacLachlan syndrome
  • Lowe-Bickel syndrome
  • Oculocerebrorenal syndrome of Lowe
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteBrain structure   12738006
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteRenal tubule structure   58471003
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteLens clear   78076003
Associated morphologyOpacity   128305008
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Metabolic renal disease   106000008
  • Intellectual disability   110359009
  • X-linked recessive hereditary disease   1162976004
  • Amino acid transport disorder   16784003
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of nervous system   363235000
  • Hereditary disorder of the visual system   363343008
  • Hereditary nephropathy   367591000119105
  • Congenital anomaly of the kidney   44513007
  • Congenital anomaly of brain   57148006
  • Multiple malformation syndrome with unusual brain and/or neuromuscular findings   64162006
  • Congenital cataract   79410001
  • Renal tubular disorder   95568003
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Metabolic renal disease   106000008
          Lowe syndrome   79385002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Lowe syndrome   79385002

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
              X-linked recessive hereditary disease   1162976004
                Lowe syndrome   79385002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Metabolic disorder of transport   111394006
          Amino acid transport disorder   16784003
            Lowe syndrome   79385002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Lowe syndrome   79385002

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
            Lowe syndrome   79385002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Lowe syndrome   79385002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Viscus structure finding   406123005
      Abdominal organ finding   249561001
        Kidney finding   249578005
          Kidney disease   90708001
            Hereditary nephropathy   367591000119105
              Lowe syndrome   79385002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Viscus structure finding   406123005
      Abdominal organ finding   249561001
        Kidney finding   249578005
          Kidney disease   90708001
            Congenital anomaly of the kidney   44513007
              Lowe syndrome   79385002

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
          Congenital anomaly of brain   57148006
            Lowe syndrome   79385002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with unusual brain and/or neuromuscular findings   64162006
                Lowe syndrome   79385002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disorder of eye   62585004
          Cataract   193570009
            Congenital cataract   79410001
              Lowe syndrome   79385002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Viscus structure finding   406123005
      Abdominal organ finding   249561001
        Kidney finding   249578005
          Kidney disease   90708001
            Disorder of renal parenchyma   767094002
              Renal tubular disorder   95568003
                Lowe syndrome   79385002

ancestors
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