phenylketonuria, maternal

Preferred Label : phenylketonuria, maternal;

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 synonym : pregnancy in phenylketonuria; maternal phenylalanine hydroxylase deficiency disease; phenylalanine-hydroxylase deficiency disease, maternal; maternal phenylketonuria; pku, maternal; phenylketonuria, pregnancy in; Phenylalanine Hydroxylase Deficiency Disease, Maternal;

CISMeF synonym : in phenylketonuria, pregnancy; in phenylketonurias, pregnancy; pregnancy in phenylketonurias; phenylketonurias, pregnancy in;

MeSH annotation : check the tags PREGNANCY & FEMALE; consider also PHENYLALANINE HYDROXYLASE /defic; DF: PKU MATERNAL; check the tags PREGNANCY & FEMALE; consider also PHENYLALANINE HYDROXYLASE /defic;

Details

Origin ID

D017042;

UMLS CUI

C0085547;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Maternal hyperphenylalaninemia [HRDO Sign]
- Phenylketonuria [OMIM Phenotype]
- phenylketonuria [DO Concept]
Currated CISMeF NLP mapping
- Maternal hyperphenylalaninemia [HPO term]
- Maternal phenylketonuria [ORDO Disease]
- Maternal phenylketonuria (disorder) [SNOMED CT concept]
- maternal phenylketonuria [Disease (Nov.)]
DO Cross reference
- phenylketonuria [DO Concept]
Manual NTBT mappings (CISMeF)
- Disorder of phenylalanin or tyrosine metabolism [ORDO Disease]
- Teratogenic Pierre Robin syndrome [ORDO Disease]
Record concept(s)
- phenylketonuria, maternal [MeSH concept]
See also
- phenylalanine hydroxylase [MeSH Descriptor]
See also inter- (CISMeF)
- Embryofetopathy due to maternal phenylketonuria [ICD-11 Sub-sub category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Maternal phenylketonuria [ORDO Disease]
- Maternal phenylketonuria (disorder) [SNOMED CT concept]

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