Autosomal dominant osteopetrosis type 1   1264041000

SNOMED CT code


SNOMED code1264041000
nameAutosomal dominant osteopetrosis type 1
statusactive
date introduced2023-02-28
fully specified name(s)Autosomal dominant osteopetrosis type 1 (disorder)
synonymsAutosomal dominant osteopetrosis type 1
attributes - group3
Clinical courseProgressive   255314001
attributes - group2
InterpretsOsteoclast turnover rate   43857005
Has interpretationBelow reference range   281300000
attributes - group1
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
Associated morphologyBony sclerosis   37748009
Pathological processPathological developmental process   308490002
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Autosomal dominant osteopetrosis type 1   1264041000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of musculoskeletal system   128237006
          Osteopetrosis   1926006
            Autosomal dominant osteopetrosis type 1   1264041000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of musculoskeletal system   128237006
          Osteosclerosis   49347007
            Autosomal dominant osteopetrosis type 1   1264041000

ancestors
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