3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome   711409002

SNOMED CT code


SNOMED code711409002
name3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
statusactive
date introduced2015-07-31
fully specified name(s)3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome (disorder)
synonyms
  • MEGDEL syndrome
  • 3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome
attributes - group1
Finding siteNervous system structure   25087005
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
attributes - group2
Finding siteAuditory structure   91159003
OccurrenceCongenital   255399007
Pathological processPathological developmental process   308490002
attributes - group3
InterpretsHearing   47078008
parents
  • Inherited metabolic disorder of nervous system   128190004
  • Disorder of mitochondrial respiratory chain complexes   237986005
  • 3-Methylglutaconic aciduria type 4   297233004
  • Auditory system hereditary disorder   362991006
  • Developmental hereditary disorder   363070008
  • Congenital sensorineural hearing loss   700453005
hierarchies
a selection of possible paths
SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Inherited metabolic disorder of nervous system   128190004
            3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome   711409002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Inborn error of metabolism   86095007
          Disorder of pyruvate metabolism and mitochondrial respiratory chain   237981000
            Disorder of mitochondrial respiratory chain complexes   237986005
              3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome   711409002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Genetic disease   782964007
        Hereditary disease   32895009
          Autosomal hereditary disorder   1899006
            Autosomal recessive hereditary disorder   85995004
              3-Methylglutaconic aciduria type 4   297233004
                3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome   711409002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Ear and auditory finding   118236001
      Disorder of auditory system   362966006
        Auditory system hereditary disorder   362991006
          3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome   711409002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Developmental disorder   5294002
        Developmental hereditary disorder   363070008
          3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome   711409002

SNOMED CT Concept   138875005
  Clinical finding   404684003
    Disease   64572001
      Congenital disease   66091009
        Congenital hearing disorder   95827002
          Congenital sensorineural hearing loss   700453005
            3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome   711409002

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