Severe neonatal onset encephalopathy with microcephaly   771303004

SNOMED CT code


SNOMED code771303004
nameSevere neonatal onset encephalopathy with microcephaly
statusactive
date introduced2019-01-31
fully specified name(s)Severe neonatal onset encephalopathy with microcephaly (disorder)
synonyms
  • Severe congenital encephalopathy due to methyl-CpG binding protein 2 mutation
  • Severe neonatal onset encephalopathy with microcephaly
  • Severe congenital encephalopathy due to MECP2 mutation
  • Severe congenital encephalopathy due to MECP2 (methyl-CpG binding protein 2) mutation
  • MECP2-related severe neonatal encephalopathy
attributes - group2
OccurrenceNeonatal   255407002
Pathological processPathological developmental process   308490002
Finding siteBrain structure   12738006
attributes - group1
Has interpretationBelow reference range   281300000
InterpretsHead circumference   363812007
parents
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Severe neonatal onset encephalopathy with microcephaly   771303004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked recessive hereditary disease   1162976004
                Severe neonatal onset encephalopathy with microcephaly   771303004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Neurodevelopmental disorder   700364009
          Developmental and epileptic encephalopathy   1275631007
            Severe neonatal onset encephalopathy with microcephaly   771303004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              MECP2 related disorder   1296869000
                Severe neonatal onset encephalopathy with microcephaly   771303004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Severe neonatal onset encephalopathy with microcephaly   771303004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of body system   362965005
        Disorder of nervous system   118940003
          Hereditary disorder of nervous system   363235000
            Severe neonatal onset encephalopathy with microcephaly   771303004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of neonate   118188004
      Neonatal disease   22925008
        Central nervous system dysfunction in newborn   37145001
          Neonatal encephalopathy   95628005
            Severe neonatal onset encephalopathy with microcephaly   771303004

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