loading...| Preferred Name |
Phenylketonuria, Maternal |
| Synonyms |
Maternal Phenylketonuria |
| Definitions |
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) |
| ID |
http://purl.bioontology.org/ontology/MESH/D017042 |
| altLabel |
Maternal Phenylketonuria Maternal Phenylalanine Hydroxylase Deficiency Disease Phenylalanine Hydroxylase Deficiency Disease, Maternal Phenylketonuria, Pregnancy in Pregnancy in Phenylketonuria PKU, Maternal Phenylalanine-Hydroxylase Deficiency Disease, Maternal |
| AN |
check the tags PREGNANCY & FEMALE; consider also PHENYLALANINE HYDROXYLASE /defic |
| 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 |
| cui |
C0085547 |
| DC |
1 |
| 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) |
| DX |
19920101 |
| FX |
D010651 |
| HN |
1992 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Machine permutation |
1992 |
| MDA |
19910530 |
| MMR |
20210630 |
| MN |
C18.452.132.100.687.500 C18.452.648.189.687.500 C18.452.648.100.766.500 C10.228.140.163.100.687.500 C16.320.565.100.766.500 C12.050.703.575 C16.320.565.189.687.500 |
| notation |
D017042 |
| prefLabel |
Phenylketonuria, Maternal |
| TERMUI |
T369899 T372775 T050883 T050884 T369900 T369901 |
| TH |
NLM (1992) NLM (2000) OMIM (2013) |
| tui |
T047 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/261600 | Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 | CUI |