Microcephaly   1148757008

SNOMED CT code


SNOMED code1148757008
nameMicrocephaly
statusactive
date introduced2021-07-31
fully specified name(s)Microcephaly (finding)
synonyms
  • Microcephalus
  • Microcephaly
attributes - group1
Has interpretationBelow reference range   281300000
InterpretsHead circumference   363812007
attributes - group2
Finding siteHead structure   69536005
parentsFinding of head circumference   301338002
children
  • Child HC 0.5th - 1.9th centile   314645002
  • Child HC < 0.4th centile   314643009
  • Child HC = 0.4th centile   314644003
  • Child HC = 2nd centile   314646001
  • Christianson syndrome   702354007
  • Congenital ichthyosis, microcephalus, tetraplegia syndrome   1197059004
  • Congenital microcephaly   1148758003
  • Deficiency of leukotriene C4 synthase   717185008
  • Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome   1169356004
  • Fatty acyl-CoA reductase 1 deficiency   1237619001
  • Fetal microcephaly   431265009
  • Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly   770725000
  • Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome   1177178005
  • ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement   1208747005
  • Menke Hennekam syndrome   1260095004
  • Microcephaly, congenital cataract, psoriasiform dermatitis syndrome   1172683008
  • Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome   771074000
  • Microcephaly, thin corpus callosum, intellectual disability syndrome   770721009
  • PLAA-associated neurodevelopmental disorder   1217367007
  • Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome   1173998003
  • Progressive cerebello-cerebral atrophy   1208481000
  • Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome   1172900005
  • PYCR2-related microcephaly, progressive leukoencephalopathy   1237421000
  • Sanjad Sakati syndrome   1197148005
  • Secondary microcephaly   253130001
  • Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome   774149004
  • Severe neonatal onset encephalopathy with microcephaly   771303004
  • Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract   1179282009
  • Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome   1237418002
  • USP18 deficiency   1251449006
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008

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