Microcephaly, congenital cataract, psoriasiform dermatitis syndrome   1172683008

SNOMED CT code


SNOMED code1172683008
nameMicrocephaly, congenital cataract, psoriasiform dermatitis syndrome
statusactive
date introduced2021-09-30
fully specified name(s)Microcephaly, congenital cataract, psoriasiform dermatitis syndrome (disorder)
synonyms
  • Sterol-C4-methyl oxidase deficiency
  • SMO (sterol-C4-methyl oxidase) deficiency
  • Microcephaly, congenital cataract, psoriasiform dermatitis syndrome
attributes - group4
InterpretsHead circumference   363812007
Has interpretationBelow reference range   281300000
attributes - group1
OccurrenceCongenital   255399007
Finding siteLens clear   78076003
Associated morphologyOpacity   128305008
Pathological processPathological developmental process   308490002
attributes - group2
Finding siteSkin structure   39937001
Associated morphologyPsoriasiform rash   36639000
attributes - group3
Finding siteSkin structure   39937001
Associated morphologyInflammatory morphology   409774005
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
          Microcephaly, congenital cataract, psoriasiform dermatitis syndrome   1172683008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of lipoprotein AND/OR lipid metabolism   48286001
          Disorder of lipid storage and metabolism   238017009
            Disorder of cholesterol synthesis   238036004
              Microcephaly, congenital cataract, psoriasiform dermatitis syndrome   1172683008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Microcephaly, congenital cataract, psoriasiform dermatitis syndrome   1172683008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Microcephaly, congenital cataract, psoriasiform dermatitis syndrome   1172683008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Microcephaly, congenital cataract, psoriasiform dermatitis syndrome   1172683008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Disorder of lipoprotein AND/OR lipid metabolism   48286001
          Inborn error of lipoprotein metabolism   43465001
            Microcephaly, congenital cataract, psoriasiform dermatitis syndrome   1172683008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Skin finding   106076001
        Disorder of skin   95320005
          Inflammatory dermatosis   703938007
            Psoriasiform dermatitis   52230004
              Microcephaly, congenital cataract, psoriasiform dermatitis syndrome   1172683008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Degenerative disorder   362975008
        Degenerative disorder of eye   62585004
          Cataract   193570009
            Congenital cataract   79410001
              Microcephaly, congenital cataract, psoriasiform dermatitis syndrome   1172683008

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Microcephaly, congenital cataract, psoriasiform dermatitis syndrome   1172683008

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