Preferred Name

Phenylketonuria, Maternal [Disease/Finding]

Synonyms

PKU, Maternal

ID

http://purl.bioontology.org/ontology/NDFRT/N0000003518

altLabel

PKU, Maternal

Maternal Phenylketonuria

Phenylketonuria, Maternal

Pregnancy in Phenylketonuria

Phenylalanine-Hydroxylase Deficiency Disease, Maternal

Maternal Phenylalanine Hydroxylase Deficiency Disease

cui

C0085547

MESH DEFINITION

A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)

MESH DUI

D017042

MeSH name

Phenylketonuria, Maternal

MESH UI

M0025897

NDFRT kind

DISEASE_KIND

notation

N0000003518

NUI

N0000003518

prefLabel

Phenylketonuria, Maternal [Disease/Finding]

SNOMED CID

297225000

tui

T047

subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000002389

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