Microcephalus with cardiac defect and lung malsegmentation syndrome   719379001

SNOMED CT code


SNOMED code719379001
nameMicrocephalus with cardiac defect and lung malsegmentation syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)
synonyms
  • Microcephalus with cardiac defect and lung malsegmentation syndrome
  • Microcephaly with cardiac defect and lung malsegmentation syndrome
  • Ellis Yale Winter syndrome
attributes - group2
Finding siteLung structure   39607008
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteHeart structure   80891009
attributes - group3
Pathological processPathological developmental process   308490002
Finding siteHead structure   69536005
OccurrenceCongenital   255399007
Associated morphologyCongenital smallness   41086002
attributes - group4
InterpretsBirth head circumference   169876006
Has interpretationBelow reference range   281300000
parents
  • Congenital microcephaly   1148758003
  • Congenital heart disease   13213009
  • Cardiovascular system hereditary disorder   363005004
  • Developmental hereditary disorder   363070008
  • Congenital anomaly of lung   47147007
  • Multiple system malformation syndrome   82354003
  • 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
            Microcephalus with cardiac defect and lung malsegmentation syndrome   719379001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Heart disease   56265001
          Structural disorder of heart   128599005
            Congenital heart disease   13213009
              Microcephalus with cardiac defect and lung malsegmentation syndrome   719379001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Microcephalus with cardiac defect and lung malsegmentation syndrome   719379001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Microcephalus with cardiac defect and lung malsegmentation syndrome   719379001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Respiratory finding   106048009
      Lower respiratory tract finding   301226008
        Congenital anomaly of lower respiratory system   123654008
          Congenital anomaly of lung   47147007
            Microcephalus with cardiac defect and lung malsegmentation syndrome   719379001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Microcephalus with cardiac defect and lung malsegmentation syndrome   719379001

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Microcephalus with cardiac defect and lung malsegmentation syndrome   719379001

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