Facial dysmorphism, conductive hearing loss, heart defect syndrome   763279007

SNOMED CT code


SNOMED code763279007
nameFacial dysmorphism, conductive hearing loss, heart defect syndrome
statusactive
date introduced2018-07-31
fully specified name(s)Facial dysmorphism, conductive hearing loss, heart defect syndrome (disorder)
synonyms
  • Facial dysmorphism, conductive hearing loss, heart defect syndrome
  • Tyshchenko syndrome
  • Dysmorphism, conductive hearing loss, heart defect syndrome
attributes - group3
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteFace structure   89545001
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteEar structure   117590005
attributes - group4
Pathological processPathological developmental process   308490002
Associated morphologyMorphologically abnormal structure   49755003
OccurrenceCongenital   255399007
Finding siteHeart structure   80891009
attributes - group2
Has interpretationDecreased   1250004
InterpretsHearing   47078008
parents
  • Autosomal dominant hereditary disorder   11164009
  • Congenital heart disease   13213009
  • Auditory system hereditary disorder   362991006
  • Cardiovascular system hereditary disorder   363005004
  • Developmental hereditary disorder   363070008
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Congenital conductive hearing loss   737344003
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal dominant hereditary disorder   11164009
              Facial dysmorphism, conductive hearing loss, heart defect syndrome   763279007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Cardiac finding   301095005
        Heart disease   56265001
          Structural disorder of heart   128599005
            Congenital heart disease   13213009
              Facial dysmorphism, conductive hearing loss, heart defect syndrome   763279007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Facial dysmorphism, conductive hearing loss, heart defect syndrome   763279007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Cardiovascular finding   106063007
      Disorder of cardiovascular system   49601007
        Cardiovascular system hereditary disorder   363005004
          Facial dysmorphism, conductive hearing loss, heart defect syndrome   763279007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Facial dysmorphism, conductive hearing loss, heart defect syndrome   763279007

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
              Facial dysmorphism, conductive hearing loss, heart defect syndrome   763279007

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Decreased hearing   103276001
          Congenital conductive hearing loss   737344003
            Facial dysmorphism, conductive hearing loss, heart defect syndrome   763279007

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