|||
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
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