Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome   1279889005

SNOMED CT code


SNOMED code1279889005
nameMicrocephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome
statusactive
date introduced2023-04-30
fully specified name(s)Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder)
synonymsMicrocephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome
attributes - group4
InterpretsBirth head circumference   169876006
Has interpretationBelow reference range   281300000
attributes - group1
OccurrenceCongenital   255399007
Finding siteHead structure   69536005
Associated morphologyCongenital smallness   41086002
Pathological processPathological developmental process   308490002
attributes - group2
OccurrenceCongenital   255399007
Finding siteEye structure   81745001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
attributes - group3
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
parents
  • Autosomal dominant hereditary disorder   11164009
  • Congenital microcephaly   1148758003
  • Congenital anomaly of eye   19416009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the visual system   363343008
  • Multiple malformation syndrome with facial defects as major feature   65094009
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome   1279889005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Congenital microcephaly   1148758003
            Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome   1279889005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Congenital anomaly of visual system   127329003
          Congenital anomaly of eye   19416009
            Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome   1279889005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome   1279889005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome   1279889005

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, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome   1279889005

ancestors
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