Infantile malignant osteopetrosis   367489004

SNOMED CT code


SNOMED code367489004
nameInfantile malignant osteopetrosis
statusactive
date introduced2002-01-31
fully specified name(s)Infantile malignant osteopetrosis (disorder)
synonyms
  • Congenital osteopetrosis
  • Autosomal recessive lethal osteopetrosis
  • Autosomal recessive malignant osteopetrosis
  • Infantile malignant osteopetrosis
  • Marble bone disease
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure   272673000
attributes - group2
Has interpretationBelow reference range   281300000
InterpretsOsteoclast turnover rate   43857005
attributes - group3
Clinical courseProgressive   255314001
parents
  • Osteopetrosis   1926006
  • Autosomal recessive hereditary disorder   85995004
childrenHenck-Assman disease   360500002  removed: 2017-07-31
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of musculoskeletal system   128237006
          Osteopetrosis   1926006
            Infantile malignant osteopetrosis   367489004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Infantile malignant osteopetrosis   367489004

ancestors
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