raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:79254

Classic phenylketonuria

inactive · moved to ORPHA:716Phenylketonuria

Synonyms: Classic PKU

Type
Clinical subtype
Group
Subtype of disorder
Status
inactive
Flag
Deprecated entity

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Phenylketonuria

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enClassic phenylketonuriaClassic PKU
frPhénylcétonurie classiquePCU classique · PKU classique
dePhenylketonurie, klassischePKU, klassische
esFenilcetonuria clásicaPKU clásica
itFenilchetonuria classicaPKU classica
nlKlassieke fenylketonurieKlassieke PKU
ptFenilcetonúria típica
plKlasyczna fenylketonuriaClassical PKU · Fenyloketonuria klasyczna · PKU klasyczna
csKlasická fenylketonurieKlasická PKU
ukКласична фенілкетонуріяКласична ФКУ
zh典型苯丙酮尿症经典型PKU
trKlasik fenilketonüriKlasik PKU

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10E70.0Especificvalidated
ICD-115C50.00Especificvalidated
MONDO0019259Evalidated
UMLSC0751434Evalidated
MedDRA10034875Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Not placed in any Orphanet classification in this release.

No children.

4

Genes

0 direct

Orphanet records no gene directly on this code.

5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card