Congenital macrocephaly   1145402008

SNOMED CT code


SNOMED code1145402008
nameCongenital macrocephaly
statusactive
date introduced2021-07-31
fully specified name(s)Congenital macrocephaly (disorder)
synonymsCongenital macrocephaly
attributes - group1
Associated morphologyEnlargement   442021009
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
Finding siteHead structure   69536005
attributes - group2
InterpretsHead circumference   363812007
Has interpretationAbove reference range   281302008
parents
children
  • Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome   1208720000
  • Atkin Flaitz syndrome   718577005
  • Bannayan syndrome   234138005
  • Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome   733417008
  • Fryns macrocephaly   716108004
  • Heide syndrome   716189005
  • Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome   1254652005
  • Intellectual disability, seizures, macrocephaly, obesity syndrome   770750002
  • Lethal hydranencephaly, diaphragmatic hernia syndrome   1172705006
  • Macrocephaly and developmental delay syndrome   763773007
  • Macrocephaly, intellectual disability, autism syndrome   783089006
  • Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome   1187304005
  • Macrocephaly, short stature, paraplegia syndrome   722033000
  • Malan overgrowth syndrome   763795006
  • Megalencephaly, severe kyphoscoliosis, overgrowth syndrome   1260143005
  • MOMO syndrome   724137002
  • Overgrowth, macrocephaly, facial dysmorphism syndrome   722122000
  • Pectus excavatum, macrocephaly, dysplastic nails syndrome   763863002
  • X-linked intellectual disability, macrocephaly, macroorchidism syndrome   719825000
  • X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome   718896000
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Macrocephaly   1145403003
          Congenital macrocephaly   1145402008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Congenital anomaly of head   87290003
          Congenital macrocephaly   1145402008

ancestors
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