Osteopetrosis hypogammaglobulinemia syndrome   773730002

SNOMED CT code


SNOMED code773730002
nameOsteopetrosis hypogammaglobulinemia syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Osteopetrosis hypogammaglobulinemia syndrome (disorder)
synonyms
  • Autosomal recessive osteopetrosis type 7
  • Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia
  • Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinaemia
  • Osteopetrosis hypogammaglobulinemia syndrome
  • Osteopetrosis hypogammaglobulinaemia syndrome
attributes - group2
Finding siteBone structure   272673000
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
attributes - group1
OccurrenceCongenital   255399007
Finding siteSkeletal system structure   113192009
Associated morphologyDysplasia   25723000
Pathological processPathological developmental process   308490002
attributes - group6
InterpretsGlobulin measurement   250707004
Has interpretationBelow reference range   281300000
attributes - group5
Clinical courseProgressive   255314001
attributes - group4
InterpretsOsteoclast turnover rate   43857005
Has interpretationBelow reference range   281300000
attributes - group7
InterpretsBone density scan   312681000
Has interpretationAbove reference range   281302008
attributes - group3
OccurrenceCongenital   255399007
Finding siteImmune system structure   116003000
Pathological processAbnormal immune process   769247005
parents
  • Specific antibody deficiency   234556002
  • Dysplasia with increased bone density   254120004
  • Congenital hypogammaglobulinemia   267460002
  • Congenital immunodeficiency disease   36138009
  • Hereditary disorder of immune system   363138005
  • Chronic disease of immune function   413834006
  • Chronic disease of immune structure   413835007
  • Osteochondrodysplasia with osteopetrosis   50108000
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of immune structure   414030009
          Specific antibody deficiency   234556002
            Osteopetrosis hypogammaglobulinemia syndrome   773730002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Bone finding   118953000
        Disorder of bone   76069003
          Dysplasia with increased bone density   254120004
            Osteopetrosis hypogammaglobulinemia syndrome   773730002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Procedure related finding   127325009
      Evaluation finding   441742003
        Measurement finding   118245000
          Measurement finding outside reference range   442096005
            Measurement finding below reference range   442686002
              Globulin below reference range   124020004
                Hypogammaglobulinemia   119250001
                  Congenital hypogammaglobulinemia   267460002
                    Osteopetrosis hypogammaglobulinemia syndrome   773730002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital immunodeficiency disease   36138009
          Osteopetrosis hypogammaglobulinemia syndrome   773730002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of immune function   414029004
        Hereditary disorder of immune system   363138005
          Osteopetrosis hypogammaglobulinemia syndrome   773730002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of immune function   413834006
          Osteopetrosis hypogammaglobulinemia syndrome   773730002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of immune structure   413835007
          Osteopetrosis hypogammaglobulinemia syndrome   773730002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Chronic disease   27624003
        Chronic disease of musculoskeletal system   128237006
          Osteopetrosis   1926006
            Osteochondrodysplasia with osteopetrosis   50108000
              Osteopetrosis hypogammaglobulinemia syndrome   773730002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Osteopetrosis hypogammaglobulinemia syndrome   773730002

ancestors
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