Autosomal recessive chorioretinopathy and microcephaly syndrome   770404004

SNOMED CT code


SNOMED code770404004
nameAutosomal recessive chorioretinopathy and microcephaly syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)
synonyms
  • Autosomal recessive chorioretinopathy and microcephaly syndrome
  • Autosomal recessive chorioretinopathy, microcephaly, intellectual disability syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteHead structure   69536005
Associated morphologyCongenital smallness   41086002
OccurrenceCongenital   255399007
attributes - group2
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group3
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteVisual structure   49549006
attributes - group4
Has interpretationBelow reference range   281300000
InterpretsBirth head circumference   169876006
attributes - group5
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group6
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Congenital microcephaly   1148758003
  • Congenital anomaly of visual system   127329003
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the visual system   363343008
  • 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
          Autosomal recessive chorioretinopathy and microcephaly syndrome   770404004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Congenital microcephaly   1148758003
            Autosomal recessive chorioretinopathy and microcephaly syndrome   770404004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Congenital anomaly of visual system   127329003
          Autosomal recessive chorioretinopathy and microcephaly syndrome   770404004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Autosomal recessive chorioretinopathy and microcephaly syndrome   770404004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Autosomal recessive chorioretinopathy and microcephaly syndrome   770404004

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
              Autosomal recessive chorioretinopathy and microcephaly syndrome   770404004

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 chorioretinopathy and microcephaly syndrome   770404004

ancestors
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