Lethal polymalformative syndrome Boissel type   778026007

SNOMED CT code


SNOMED code778026007
nameLethal polymalformative syndrome Boissel type
statusactive
date introduced2019-01-31
fully specified name(s)Lethal polymalformative syndrome Boissel type (disorder)
synonymsLethal polymalformative syndrome Boissel type
attributes - group1
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
parents
  • Developmental delay   248290002
  • Developmental hereditary disorder   363070008
  • 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
    Disease   64572001
      Developmental disorder   5294002
        Developmental delay   248290002
          Lethal polymalformative syndrome Boissel type   778026007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Lethal polymalformative syndrome Boissel type   778026007

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
              Lethal polymalformative syndrome Boissel type   778026007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Lethal polymalformative syndrome Boissel type   778026007

ancestors
sorted most to least specific
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