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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Id | http://purl.bioontology.org/ontology/NDFRT/N0000003518
http://purl.bioontology.org/ontology/NDFRT/N0000003518
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|---|---|
| Preferred Name | Phenylketonuria, Maternal [Disease/Finding] |
| Synonyms |
PKU, Maternal
Maternal Phenylketonuria
Phenylketonuria, Maternal
Pregnancy in Phenylketonuria
Phenylalanine-Hydroxylase Deficiency Disease, Maternal
Maternal Phenylalanine Hydroxylase Deficiency Disease
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PKU, Maternal
Maternal Phenylketonuria
Phenylketonuria, Maternal
Pregnancy in Phenylketonuria
Phenylalanine-Hydroxylase Deficiency Disease, Maternal
Maternal Phenylalanine Hydroxylase Deficiency Disease
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|---|---|
| prefLabel |
Phenylketonuria, Maternal [Disease/Finding]
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| notation |
N0000003518
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| 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)
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| MESH UI |
M0025897
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| subClassOf | |
| Semantic type UMLS property | |
| MeSH name |
Phenylketonuria, Maternal
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| NDFRT kind |
DISEASE_KIND
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| type | |
| SNOMED CID |
297225000
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| tui |
T047
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| NUI |
N0000003518
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| cui |
C0085547
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| MESH DUI |
D017042
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