Hypertelorism with microtia and facial clefting syndrome   721836009

SNOMED CT code


SNOMED code721836009
nameHypertelorism with microtia and facial clefting syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Hypertelorism with microtia and facial clefting syndrome (disorder)
synonyms
  • Hypertelorism with microtia and facial clefting syndrome
  • Bixler Christian Gorlin syndrome
  • HMC (hypertelorism, microtia, clefting) syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Finding siteExternal ear structure   28347008
Associated morphologyCongenital smallness   41086002
OccurrenceCongenital   255399007
attributes - group3
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyDevelopmental failure of fusion   371520008
Finding siteLip structure   48477009
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyDevelopmental failure of fusion   371520008
OccurrenceCongenital   255399007
Finding sitePalatal structure   72914001
attributes - group4
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteSphenoid bone structure   73117003
parents
  • Hypertelorism   22006008
  • Microtia   35045004
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Digestive system hereditary disorder   363080007
  • Hereditary disorder of musculoskeletal system   363212003
  • Multiple malformation syndrome with facial defects as major feature   65094009
  • Cleft palate with cleft lip   66948001
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of skull   118945008
          Congenital anomaly of skull   51655004
            Hypertelorism   22006008
              Hypertelorism with microtia and facial clefting syndrome   721836009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of sensory organ   1279550006
        Disorder of ear   25906001
          Congenital malformation of ear   275259005
            Congenital abnormality of external ear   282038006
              Microtia   35045004
                Hypertelorism with microtia and facial clefting syndrome   721836009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Hypertelorism with microtia and facial clefting syndrome   721836009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Hypertelorism with microtia and facial clefting syndrome   721836009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Hypertelorism with microtia and facial clefting syndrome   721836009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Hypertelorism with microtia and facial clefting syndrome   721836009

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
              Hypertelorism with microtia and facial clefting syndrome   721836009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Finding of head and neck region   118254002
      Head finding   406122000
        Finding of head region   298364001
          Orofacial cleft   449790007
            Cleft lip   80281008
              Cleft palate with cleft lip   66948001
                Hypertelorism with microtia and facial clefting syndrome   721836009

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Hypertelorism with microtia and facial clefting syndrome   721836009

ancestors
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