Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts   15552004

SNOMED CT code


SNOMED code15552004
nameOsteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
statusactive
date introduced2002-01-31
fully specified name(s)Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts (disorder)
synonymsOsteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyDysplasia   25723000
Finding siteBone structure   272673000
OccurrenceCongenital   255399007
attributes - group4
Pathological processPathological developmental process   308490002
Associated morphologyOpacity   128305008
OccurrenceCongenital   255399007
Finding siteLens clear   78076003
attributes - group3
Has interpretationAbnormal   263654008
InterpretsBone formation   83323007
attributes - group1
Finding siteHead structure   69536005
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyCongenital smallness   41086002
attributes - group5
Has interpretationBelow reference range   281300000
InterpretsBirth head circumference   169876006
parents
  • Congenital microcephaly   1148758003
  • Osteogenesis imperfecta, perinatal lethal   205496008
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Hereditary disorder of the visual system   363343008
  • Congenital cataract   79410001
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Congenital microcephaly   1148758003
            Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts   15552004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Abnormal bone formation   36123008
        Osteogenesis imperfecta   78314001
          Osteogenesis imperfecta, perinatal lethal   205496008
            Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts   15552004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts   15552004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts   15552004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts   15552004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disorder of eye   62585004
          Cataract   193570009
            Congenital cataract   79410001
              Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts   15552004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts   15552004

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