Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance   93466004

SNOMED CT code


SNOMED code93466004
nameGonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
statusactive
date introduced2002-01-31
fully specified name(s)Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance (disorder)
synonyms
  • Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
  • Gonadal dysgenesis with sensorineural deafness, autosomal recessive inheritance
  • Perrault syndrome
attributes - group1
Associated morphologyMorphologically abnormal structure   49755003
Pathological processPathological developmental process   308490002
OccurrenceCongenital   255399007
attributes - group2
OccurrenceCongenital   255399007
Finding siteAuditory structure   91159003
attributes - group3
InterpretsHearing   47078008
parents
  • Mitochondrial cytopathy   240096000
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Congenital malformation syndrome   400038003
  • Congenital sensorineural hearing loss   700453005
  • Autosomal recessive hereditary disorder   85995004
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Metabolic disease   75934005
        Mitochondrial cytopathy   240096000
          Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance   93466004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance   93466004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance   93466004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Congenital malformation   276654001
          Congenital malformation syndrome   400038003
            Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance   93466004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital sensorineural hearing loss   700453005
            Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance   93466004

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance   93466004

ancestors
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