| fenylketonurie (aandoening) | | fenylketonurie | | phenylketonuria
PKU
PAH-deficiëntie
deficiëntie van fenylalaninehydroxylase
| | Phenylketonuria | | Oligophrenia phenylpyruvica
PKU - phenylketonuria
PAH-gene related phenylketonuria
Folling disease
Phenylalanine hydroxylase deficiency
PAH (phenylalanine hydroxylase) deficiency
| | A rare inborn error of amino acid metabolism characterized by elevated blood phenylalanine and low levels or absence of phenylalanine hydroxylase enzyme. If not detected early or left untreated, the disorder manifests with mild to severe mental disability. |
| | Id | 190687004 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 716 |
| SNOMED CT to ICD-10 extended map | | Target | E70.1 | | Rule | TRUE | | Advice | ALWAYS E70.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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