Fryns macrocephaly   716108004

SNOMED CT code


SNOMED code716108004
nameFryns macrocephaly
statusactive
date introduced2016-07-31
fully specified name(s)Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)
synonyms
  • Macrocephaly with spastic paraplegia and dysmorphism syndrome
  • Fryns macrocephaly
attributes - group3
Finding siteFace structure   89545001
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyMorphologically abnormal structure   49755003
attributes - group4
Pathological processPathological developmental process   308490002
Associated morphologyEnlargement   442021009
Finding siteHead structure   69536005
OccurrenceCongenital   255399007
attributes - group1
Associated morphologyDegenerative abnormality   107669003
Finding siteSpinal cord structure   2748008
attributes - group5
Has interpretationAbove reference range   281302008
InterpretsHead circumference   363812007
attributes - group6
Clinical courseProgressive   255314001
attributes - group9
InterpretsMovement   255324009
attributes - group2
Finding siteRight lower extremity structure   62175007
attributes - group8
Finding siteLeft lower extremity structure   32153003
attributes - group7
InterpretsMovement observable   363847004
Has interpretationAbsent   2667000
parents
  • Congenital macrocephaly   1145402008
  • Autosomal recessive hereditary spastic paraplegia   1187279003
  • Developmental hereditary disorder   363070008
  • Multiple malformation syndrome with facial defects as major feature   65094009
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
            Fryns macrocephaly   716108004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Autosomal recessive hereditary spastic paraplegia   1187279003
                Fryns macrocephaly   716108004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Fryns macrocephaly   716108004

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
              Fryns macrocephaly   716108004

ancestors
sorted most to least specific
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