Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome   721903007

SNOMED CT code


SNOMED code721903007
nameMicrocephaly, hypogammaglobulinemia, abnormal immunity syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)
synonyms
  • Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome
  • Microcephaly, hypogammaglobulinaemia, abnormal immunity syndrome
  • Say Barber Miller syndrome
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
attributes - group2
OccurrenceCongenital   255399007
Associated morphologyCongenital smallness   41086002
Pathological processPathological developmental process   308490002
Finding siteHead structure   69536005
attributes - group3
Pathological processAbnormal immune process   769247005
attributes - group4
Has interpretationBelow reference range   281300000
InterpretsBirth head circumference   169876006
parents
  • Congenital microcephaly   1148758003
  • Congenital immunodeficiency disease   36138009
  • Developmental hereditary disorder   363070008
  • Primary immune deficiency disorder   58606001
  • 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
            Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome   721903007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital immunodeficiency disease   36138009
          Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome   721903007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome   721903007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of immune function   414029004
        Immunodeficiency disorder   234532001
          Primary immune deficiency disorder   58606001
            Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome   721903007

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
              Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome   721903007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome   721903007

ancestors
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