Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome   771179007

SNOMED CT code


SNOMED code771179007
nameExtrasystoles, short stature, hyperpigmentation, microcephaly syndrome
statusactive
date introduced2019-01-31
fully specified name(s)Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder)
synonyms
  • Char Douglas Dungan syndrome
  • Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome
attributes - group2
Finding siteVentricular conducting pathway   277943000
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group1
Finding siteSkin structure   39937001
Pathological processPathological developmental process   308490002
Associated morphologyHyperpigmentation   4830009
OccurrenceCongenital   255399007
attributes - group3
Pathological processPathological developmental process   308490002
Finding siteHead structure   69536005
OccurrenceCongenital   255399007
Associated morphologyCongenital smallness   41086002
attributes - group4
InterpretsHeight / growth measure   271603002
Has interpretationBelow reference range   281300000
attributes - group5
Has interpretationBelow reference range   281300000
InterpretsBirth head circumference   169876006
attributes - group6
InterpretsIntellectual ability   247573007
Has interpretationImpaired   260379002
attributes - group7
InterpretsAdaptation behavior   406208005
Has interpretationImpaired   260379002
parents
  • Intellectual disability   110359009
  • Autosomal dominant hereditary disorder   11164009
  • Congenital microcephaly   1148758003
  • Short stature disorder   237836003
  • Inherited cutaneous hyperpigmentation   239079007
  • Multiple premature ventricular complexes   251176006
  • Cardiovascular system hereditary disorder   363005004
  • Congenital cardiovascular disorder   762228008
  • Multiple system malformation syndrome   82354003
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
          Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome   771179007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome   771179007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Body measurement finding   365605003
      Finding of head circumference   301338002
        Microcephaly   1148757008
          Congenital microcephaly   1148758003
            Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome   771179007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of general physiological development   271616002
      Disorder of stature   237834000
        Short stature disorder   237836003
          Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome   771179007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Integumentary system finding   106077005
      Disorder of integument   128598002
        Hereditary disorder of the integument   363185004
          Inherited cutaneous hyperpigmentation   239079007
            Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome   771179007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Heart disease   56265001
          Cardiac arrhythmia   698247007
            Aberrant premature complexes   251167004
              Multiple premature ventricular complexes   251176006
                Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome   771179007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome   771179007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Congenital cardiovascular disorder   762228008
          Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome   771179007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome   771179007

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