Macrocephaly and developmental delay syndrome   763773007

SNOMED CT code


SNOMED code763773007
nameMacrocephaly and developmental delay syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Macrocephaly and developmental delay syndrome (disorder)
synonymsMacrocephaly and developmental delay syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyEnlargement   442021009
Finding siteHead structure   69536005
OccurrenceCongenital   255399007
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group3
InterpretsHead circumference   363812007
Has interpretationAbove reference range   281302008
attributes - group4
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group5
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Congenital macrocephaly   1145402008
  • 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
    Mental state, behavior and/or psychosocial function finding   384821006
      Behavior finding   844005
        Intellectual disability   110359009
          Macrocephaly and developmental delay syndrome   763773007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Macrocephaly   1145403003
          Congenital macrocephaly   1145402008
            Macrocephaly and developmental delay syndrome   763773007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Macrocephaly and developmental delay syndrome   763773007

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
              Macrocephaly and developmental delay syndrome   763773007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Macrocephaly and developmental delay syndrome   763773007

ancestors
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