aandoening van centraal zenuwstelsel
autosomaal recessieve hereditaire aandoening
hereditaire stoornis van metabolisme van zenuwstelsel
hyperammoniëmie
hyperornithinemie
stoornis van ornithinemetabolisme
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hyperornithinemie-hyperammonemie-homocitrullinemiesyndroom (aandoening)
hyperornithinemie-hyperammonemie-homocitrullinemiesyndroom
HHH-syndroom
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
SLC25A15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome
HHH - Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Solute carrier family 25 member 15-gene related hyperornithinemia, hyperammonemia, homocitrullinuria syndrome
Id30287008
StatusPrimitive
Occurrencecongenitaal
Finding sitestructuur van centraal zenuwstelsel
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE72.2
TermStofwisselingsstoornissen van ureumcyclus
TargetE72.4
TermStoornissen van ornithinemetabolisme
SNOMED CT to Orphanet simple map415
SNOMED CT to ICD-10 extended map
TargetE72.4
RuleTRUE
AdviceALWAYS E72.4
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE72.2
RuleTRUE
AdviceALWAYS E72.2
CorrelationSNOMED CT source code to target map code correlation not specified