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autosomaal recessieve extraorale foetor ex ore (aandoening)
autosomaal recessieve extraorale foetor ex ore
autosomaal recessieve extraorale halitose
Autosomal recessive extra-oral halitosis
Methanethiol oxidase deficiency
MTO (methanethiol oxidase) deficiency
A rare inborn error of metabolism characterized by cabbage-like breath odor with high levels of methanethiol and dimethylsulfide in oral and nasal breath due to methanethiol oxidase deficiency. Laboratory examination shows elevated levels of dimethylsulfide, dimethylsulfoxide and dimethylsulfone in blood, cerebrospinal fluid (CSF) and urine.
Id1269235004
StatusPrimitive
Occurrencecongenitaal
SNOMED CT to Orphanet simple map562538
SNOMED CT to ICD-10 extended map
TargetE88.8
RuleTRUE
AdviceALWAYS E88.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified