Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome   720640005

SNOMED CT code


SNOMED code720640005
nameChoanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome (disorder)
synonyms
  • Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome
  • Burn McKeown syndrome
attributes - group2
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Finding siteBone structure of cranium   89546000
Associated morphologyMorphologically abnormal structure   49755003
attributes - group1
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
Associated morphologyCongenital atresia   56457002
Finding siteStructure of choana   71717001
parents
  • Choanal atresia   204508009
  • Developmental hereditary disorder   363070008
  • Digestive system hereditary disorder   363080007
  • Hereditary disorder of musculoskeletal system   363212003
  • Congenital anomaly of skull   51655004
  • 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
    Disease   64572001
      Disorder of head   118934005
        Disorder of nose and nasopharynx   232339008
          Congenital abnormality of nose and nasopharynx   282040001
            Congenital atresia of nasopharynx   59423009
              Choanal atresia   204508009
                Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome   720640005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome   720640005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Digestive system finding   386617003
      Disorder of digestive system   53619000
        Digestive system hereditary disorder   363080007
          Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome   720640005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Musculoskeletal finding   106028002
      Disorder of musculoskeletal system   928000
        Hereditary disorder of musculoskeletal system   363212003
          Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome   720640005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Disorder of head   118934005
        Disorder of skull   118945008
          Congenital anomaly of skull   51655004
            Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome   720640005

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
              Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome   720640005

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Choanal atresia, hearing loss, cardiac defect, craniofacial dysmorphism syndrome   720640005

ancestors
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