Neu-Laxova syndrome   77817004

SNOMED CT code


SNOMED code77817004
nameNeu-Laxova syndrome
statusactive
date introduced2002-01-31
fully specified name(s)Neu-Laxova syndrome (disorder)
synonyms
  • NLS - Neu-Laxova syndrome
  • Neu-Laxova syndrome
  • 3-phosphoglycerate dehydrogenase deficiency neonatal form
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyCongenital smallness   41086002
Finding siteHead structure   69536005
OccurrenceCongenital   255399007
attributes - group4
Has interpretationAbnormal   263654008
InterpretsKeratinization   44138005
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyHyperkeratosis   26996000
Finding siteEntire skin   181469002
OccurrenceCongenital   255399007
attributes - group3
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
Finding siteFace structure   89545001
OccurrenceCongenital   255399007
attributes - group5
Has interpretationBelow reference range   281300000
InterpretsBirth head circumference   169876006
parents
  • Congenital microcephaly   1148758003
  • 3-Phosphoglycerate dehydrogenase deficiency   303098002
  • Autosomal recessive ichthyosis   402772005
  • 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
        Microcephaly   1148757008
          Congenital microcephaly   1148758003
            Neu-Laxova syndrome   77817004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of organic acid metabolism   116021002
          Disorder of amino acid metabolism   44779003
            Disorder of amino acid and organic acid metabolism   237911005
              Disorder of serine metabolism   303097007
                3-Phosphoglycerate dehydrogenase deficiency   303098002
                  Neu-Laxova syndrome   77817004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Skin finding   106076001
        Rough skin   816995008
          Congenital ichthyosis of skin   13059002
            Autosomal recessive ichthyosis   402772005
              Neu-Laxova syndrome   77817004

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
              Neu-Laxova syndrome   77817004

ancestors
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