loading...| Preferred Name |
Maternal Hyperphenylalaninemia |
|
| Synonyms |
Maternal PKU Phenylketonuric embryopathy Maternal Phenylalanine Hydroxylase Deficiency Disease Maternal hyperphenylalaninemia Phenylketonuria, Pregnancy in Phenylketonurias, Pregnancy in Hyperphenylalaninemic embryopathy in Phenylketonurias, Pregnancy PKU, Maternal in Phenylketonuria, Pregnancy Phenylketonuria, Maternal [Disease/Finding] Maternal phenylketonuria Phenylketonuria, Maternal MATERNAL PHENYLALANINE HYDROXYLASE DEFIC DIS High blood phenylalanine level in mother Pregnancy in Phenylketonuria Pregnancy in Phenylketonurias PKU MATERNAL Phenylalanine-Hydroxylase Deficiency Disease, Maternal Maternal phenylketonuria (disorder) PREGN PHENYLKETONURIA MPKU |
|
| Definitions |
[MSH 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) [HPO Definition]: A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy |
|
| ID |
http://pat.nichd.nih.gov/maternalconditions/C0085547 |
|
| Definition |
[MSH 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) [HPO Definition]: A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy |
|
| External Source |
https://hpo.jax.org/app/browse/term/HP:0100610 https://ncim.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI%20Metathesaurus&code=C0085547 |
|
| Label |
Maternal Hyperphenylalaninemia |
|
| notation |
C0085547 |
|
| PAT ID |
C0085547 |
|
| prefLabel |
Maternal Hyperphenylalaninemia |
|
| Sub Class Of | ||
| Synonyms |
Maternal PKU Phenylketonuric embryopathy Maternal Phenylalanine Hydroxylase Deficiency Disease Maternal hyperphenylalaninemia Phenylketonuria, Pregnancy in Phenylketonurias, Pregnancy in Hyperphenylalaninemic embryopathy in Phenylketonurias, Pregnancy PKU, Maternal in Phenylketonuria, Pregnancy Phenylketonuria, Maternal [Disease/Finding] Maternal phenylketonuria Phenylketonuria, Maternal MATERNAL PHENYLALANINE HYDROXYLASE DEFIC DIS High blood phenylalanine level in mother Pregnancy in Phenylketonuria Pregnancy in Phenylketonurias PKU MATERNAL Phenylalanine-Hydroxylase Deficiency Disease, Maternal Maternal phenylketonuria (disorder) PREGN PHENYLKETONURIA MPKU |