Abruzzo Erickson syndrome   718574003

SNOMED CT code


SNOMED code718574003
nameAbruzzo Erickson syndrome
statusactive
date introduced2017-01-31
fully specified name(s)Cleft palate with coloboma of eye and deafness syndrome (disorder)
synonyms
  • Abruzzo Erickson syndrome
  • CHARGE-like syndrome
  • Cleft palate with coloboma of eye and deafness syndrome
attributes - group1
Pathological processPathological developmental process   308490002
Associated morphologyDevelopmental failure of fusion   371520008
OccurrenceCongenital   255399007
Finding sitePalatal structure   72914001
attributes - group2
Pathological processPathological developmental process   308490002
Associated morphologyDevelopmental failure of fusion   371520008
OccurrenceCongenital   255399007
Finding siteEye structure   81745001
attributes - group4
InterpretsHearing   47078008
Has interpretationImpaired   260379002
attributes - group3
Finding siteEar structure   117590005
OccurrenceCongenital   255399007
parents
  • X-linked recessive hereditary disease   1162976004
  • X-linked sensorineural hearing loss   232329002
  • Hearing loss associated with syndrome   232333009
  • Developmental hereditary disorder   363070008
  • Hereditary disorder of the visual system   363343008
  • Congenital mixed conductive and sensorineural hearing loss   737377004
  • Multiple system malformation syndrome   82354003
  • Cleft palate   87979003
  • Coloboma of eye   93390002
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Sex-linked hereditary disorder   82852009
            X-linked hereditary disease   128430005
              X-linked recessive hereditary disease   1162976004
                Abruzzo Erickson syndrome   718574003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          X-linked sensorineural hearing loss   232329002
            Abruzzo Erickson syndrome   718574003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Functional finding   118228005
      Hearing finding   118230007
        Hearing disorder   128540005
          Hearing loss   15188001
            Hearing loss associated with syndrome   232333009
              Abruzzo Erickson syndrome   718574003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Abruzzo Erickson syndrome   718574003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Hereditary disorder of the visual system   363343008
          Abruzzo Erickson syndrome   718574003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital sensorineural hearing loss   700453005
            Congenital mixed conductive and sensorineural hearing loss   737377004
              Abruzzo Erickson syndrome   718574003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Multiple system malformation syndrome   82354003
              Abruzzo Erickson syndrome   718574003

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 palate   87979003
              Abruzzo Erickson syndrome   718574003

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Eye / vision finding   118235002
      Visual system disorder   128127008
        Congenital anomaly of visual system   127329003
          Congenital anomaly of eye   19416009
            Coloboma of eye   93390002
              Abruzzo Erickson syndrome   718574003

ancestors
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