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hyperfenylalaninemie door deficiëntie van 'DnaJ heat shock protein family (Hsp40) member C12' (aandoening)
hyperfenylalaninemie door DNAJC12-deficiëntie
hyperfenylalaninemie door deficiëntie van 'DnaJ heat shock protein family (Hsp40) member C12'
HPA door deficiëntie van 'DnaJ/Hsp40 member C12'
Hyperphenylalaninemia due to DNAJC12 deficiency
Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia
Hyperphenylalaninemia due to DnaJ heat shock protein family (Hsp40) member C12 deficiency
A rare inborn error of metabolism characterized by increased serum phenylalanine, associated with variable neurological symptoms ranging from mild autistic features or hyperactivity to severe intellectual disability, dystonia, and parkinsonism. Laboratory analyses show normal tetrahydrobiopterin (BH4) metabolism and low levels of the CSF monoamine neurotransmitter metabolites homovanillic acid and 5-hydroxyindoleacetic acid.
Id1177177000
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE70.1
TermOverige hyperfenylalaninemieën
SNOMED CT to Orphanet simple map508523
SNOMED CT to ICD-10 extended map
TargetE70.1
RuleTRUE
AdviceALWAYS E70.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified