Overgrowth, macrocephaly, facial dysmorphism syndrome   722122000

SNOMED CT code


SNOMED code722122000
nameOvergrowth, macrocephaly, facial dysmorphism syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)
synonyms
  • Overgrowth, macrocephaly, facial dysmorphism syndrome
  • Ring finger protein 135 related overgrowth syndrome
  • RNF135 (ring finger protein 135) related overgrowth syndrome
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
Associated morphologyMorphologically abnormal structure   49755003
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyEnlargement   442021009
Finding siteHead structure   69536005
OccurrenceCongenital   255399007
attributes - group3
Has interpretationAbove reference range   281302008
InterpretsHead circumference   363812007
parents
  • Autosomal dominant hereditary disorder   11164009
  • Congenital macrocephaly   1145402008
  • Developmental hereditary disorder   363070008
  • Multiple malformation syndrome with early overgrowth   48637007
  • 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
              Overgrowth, macrocephaly, facial dysmorphism syndrome   722122000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Macrocephaly   1145403003
          Congenital macrocephaly   1145402008
            Overgrowth, macrocephaly, facial dysmorphism syndrome   722122000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Overgrowth, macrocephaly, facial dysmorphism syndrome   722122000

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Multiple malformation syndrome with early overgrowth   48637007
                Overgrowth, macrocephaly, facial dysmorphism syndrome   722122000

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
              Overgrowth, macrocephaly, facial dysmorphism syndrome   722122000

ancestors
sorted most to least specific
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