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deficiëntie van carbamoylfosfaatsynthetase 1 (aandoening)
deficiëntie van carbamoylfosfaatsynthetase 1
carbamoylfosfaatsynthetase-1-deficiëntie
Carbamoyl-phosphate synthetase 1 deficiency
CPS1 (carbamoyl-phosphate synthetase 1) deficiency
Carbamoyl-phosphate synthetase I deficiency
CPS1-gene related carbamoyl-phosphate synthetase 1 deficiency
A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.
Id765329008
StatusPrimitive
Occurrencecongenitaal
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetE72.2
TermStofwisselingsstoornissen van ureumcyclus
SNOMED CT to Orphanet simple map147
SNOMED CT to ICD-10 extended map
TargetE72.2
RuleTRUE
AdviceALWAYS E72.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified