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Phenylketonuria, Maternal (CUI C0085547) Suggest changes to this concept
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Terms & Properties

Concept Unique Identifier (CUI): C0085547

Semantic Type: Disease or Syndrome

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)

Synonyms & Abbreviations: (see Synonym Details)
Hyperphenylalaninemic embryopathy
in Phenylketonuria, Pregnancy
in Phenylketonurias, Pregnancy
Maternal hyperphenylalaninemia
MATERNAL PHENYLALANINE HYDROXYLASE DEFIC DIS
Maternal Phenylalanine Hydroxylase Deficiency Disease
Maternal phenylketonuria (disorder)
Maternal phenylketonuria
Maternal PKU
MPKU
Phenylalanine-Hydroxylase Deficiency Disease, Maternal
Phenylketonuria, Maternal [Disease/Finding]
Phenylketonuria, Maternal
Phenylketonuria, Pregnancy in
Phenylketonurias, Pregnancy in
Phenylketonuric embryopathy
PKU MATERNAL
PKU, Maternal
PREGN PHENYLKETONURIA
Pregnancy in Phenylketonurias
Pregnancy in Phenylketonuria

External Source Codes:  (none)

Other Properties: Property Definitions
Name Value Source
ACTIVE 1 SNOMEDCT_US
AN check the tags PREGNANCY & FEMALE; consider also PHENYLALANINE HYDROXYLASE /defic; DF: PKU MATERNAL MSH
AQL BL CF CI CL DG DH DI DT EC EH EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI MSH
CASE_SIGNIFICANCE_ID 900000000000020002 SNOMEDCT_US
CTV3ID Xa6aL SNOMEDCT_US
DATE_CREATED 2013-01-09T00:04:00 GARD
DATE_CREATED 2015-01-22T00:04:00 GARD
DATE_LAST_MODIFIED 2013-01-09T00:04:00 GARD
DC 1 MSH
DEFINITION_STATUS_ID 900000000000074008 SNOMEDCT_US
DISEASE_IDENTIFIER_ID 11719 GARD
DISEASE_IDENTIFIER_ID 11720 GARD
DISEASE_IDENTIFIER_ID 11721 GARD
DISEASE_IDENTIFIER_ID 31442 GARD
DISEASE_IDENTIFIER_ID 31443 GARD
DX 19920101 MSH
EFFECTIVE_TIME 20020131 SNOMEDCT_US
FX D010651 MSH
HAS_GARD_PAGE true GARD
HN 1992 MSH
IDENTIFIER_SOURCE Orp GARD
IDENTIFIER_TYPE_ID 1 GARD
IS_ACTIVE true GARD
IS_RARE true GARD
IS_SPANISH false GARD
MDA 19910530 MSH
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) NDFRT
MESH_DUI D017042 NDFRT
MESH_NAME Phenylketonuria, Maternal NDFRT
MESH_UI M0025897 NDFRT
MMR 20120703 MSH
MN C10.228.140.163.100.687.500 MSH
MN C13.703.575 MSH
MN C16.320.565.100.766.500 MSH
MN C16.320.565.189.687.500 MSH
MN C18.452.132.100.687.500 MSH
MN C18.452.648.100.766.500 MSH
MN C18.452.648.189.687.500 MSH
NDFRT_KIND DISEASE_KIND NDFRT
NUI N0000003518 NDFRT
PM 1992 MSH
RARE_DISEASE_URL http://rarediseases.info.nih.gov/gard/3413/maternal-hyperphenylalaninemia/resources/1 GARD
RXAUI 3196826 RXNORM
RXAUI 3196827 RXNORM
RXAUI 3214588 RXNORM
RXAUI 3219867 RXNORM
RXAUI 3219924 RXNORM
RXAUI 3219925 RXNORM
RXAUI 3223354 RXNORM
RXCUI 1024562 RXNORM
SNOMED_CID 297225000 NDFRT
SNOMEDID D6-A1002 SNOMEDCT_US
SUBSET_MEMBER 447562003~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPADVICE~ALWAYS E70.0 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 447562003~MAPTARGET~E70.0 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~CORRELATIONID~447561005 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPADVICE~ALWAYS E70.1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPCATEGORYID~447637006 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPGROUP~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPPRIORITY~1 SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPRULE~TRUE SNOMEDCT_US
SUBSET_MEMBER 6011000124106~MAPTARGET~E70.1 SNOMEDCT_US
SUBSET_MEMBER 900000000000497000~MAPTARGET~Xa6aL SNOMEDCT_US
SUBSET_MEMBER 900000000000498005~MAPTARGET~D6-A1002 SNOMEDCT_US
SUBSET_MEMBER 900000000000508004~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
SUBSET_MEMBER 900000000000509007~ACCEPTABILITYID~900000000000548007 SNOMEDCT_US
TERMUI T050883 MSH
TERMUI T050884 MSH
TERMUI T369899 MSH
TERMUI T369900 MSH
TERMUI T369901 MSH
TERMUI T372775 MSH
TH NLM (1992) MSH
TH NLM (2000) MSH
TH OMIM (2013) MSH
TYPE_ID 900000000000003001 SNOMEDCT_US
TYPE_ID 900000000000013009 SNOMEDCT_US

Additional Concept Data:  (none)

URL to Bookmark: https://ncim-stage.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI Metathesaurus&code=C0085547

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