Microcephalic osteodysplastic dysplasia Saul Wilson type   723404002

SNOMED CT code


SNOMED code723404002
nameMicrocephalic osteodysplastic dysplasia Saul Wilson type
statusactive
date introduced2017-07-31
fully specified name(s)Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)
synonymsMicrocephalic osteodysplastic dysplasia Saul Wilson type
attributes - group1
Finding siteBone structure   272673000
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyDysplasia   25723000
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group2
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyCongenital smallness   41086002
Finding siteHead structure   69536005
attributes - group4
InterpretsHeight / growth measure   271603002
Has interpretationBelow reference range   281300000
attributes - group5
Has interpretationBelow reference range   281300000
InterpretsBirth head circumference   169876006
parents
  • Congenital microcephaly   1148758003
  • Osteodysplastic primordial dwarfism   254101001
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of musculoskeletal system   363212003
  • Osteoplastic dysplasia   389191003
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • 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
            Microcephalic osteodysplastic dysplasia Saul Wilson type   723404002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Disorder of bone development   371521007
          Congenital anomaly of skeletal bone   8447006
            Osteodysplastic primordial dwarfism   254101001
              Microcephalic osteodysplastic dysplasia Saul Wilson type   723404002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Microcephalic osteodysplastic dysplasia Saul Wilson type   723404002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Microcephalic osteodysplastic dysplasia Saul Wilson type   723404002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Disorder of skeletal system   88230002
          Skeletal dysplasia   105986008
            Osteoplastic dysplasia   389191003
              Microcephalic osteodysplastic dysplasia Saul Wilson type   723404002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of face   118930001
          Congenital anomaly of face   398302004
            Multiple malformation syndrome with facial defects as major feature   65094009
              Microcephalic osteodysplastic dysplasia Saul Wilson type   723404002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Microcephalic osteodysplastic dysplasia Saul Wilson type   723404002

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