Osteopetrosis with renal tubular acidosis   254122007

SNOMED CT code


SNOMED code254122007
nameOsteopetrosis with renal tubular acidosis
statusactive
date introduced2002-01-31
fully specified name(s)Osteopetrosis with renal tubular acidosis (disorder)
synonyms
  • Carbonic anhydrase II deficiency
  • CA2 - Osteopetrosis with renal tubular acidosis
  • Osteopetrosis with renal tubular acidosis
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
Finding siteBone structure   272673000
OccurrenceCongenital   255399007
attributes - group2
Has interpretationBelow reference range   281300000
InterpretsOsteoclast turnover rate   43857005
attributes - group3
Clinical courseProgressive   255314001
parents
  • Chronic metabolic disorder   128289001
  • Osteopetrosis   1926006
  • Disorder of phosphate, calcium and vitamin D metabolism   237879001
  • Metabolic bone disease   50279003
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic metabolic disorder   128289001
          Osteopetrosis with renal tubular acidosis   254122007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of musculoskeletal system   128237006
          Osteopetrosis   1926006
            Osteopetrosis with renal tubular acidosis   254122007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of mineral metabolism   45744005
          Disorder of phosphate, calcium and vitamin D metabolism   237879001
            Osteopetrosis with renal tubular acidosis   254122007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Metabolic bone disease   50279003
          Osteopetrosis with renal tubular acidosis   254122007

ancestors
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