loading...| Preferred Name |
Crigler-Najjar Syndrome |
|
| Synonyms |
Crigler Najjar Syndrome, Type 1 |
|
| Definitions |
A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D003414 |
|
| altLabel |
Crigler Najjar Syndrome, Type 1 Hereditary Unconjugated Hyperbilirubinemia Hereditary Unconjugated Hyperbilirubinemias Crigler Najar Syndrome Crigler Najjar Syndromes Hyperbilirubinemia, Hereditary Unconjugated Crigler Najjar Syndrome, Type I Crigler-Najjar Syndrome, Type I Syndrome, Crigler Najjar Najjar Syndrome, Crigler Familial Nonhemolytic Unconjugated Hyperbilirubinemia Unconjugated Hyperbilirubinemia, Hereditary Crigler-Najar Syndrome Crigler Najjar Syndrome |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C5551003 C0010324 |
|
| DC |
1 |
|
| definition |
A familial form of congenital hyperbilirubinemia transmitted as an autosomal recessive trait. It is characterized by icterus and brain damage caused by a glucuronyl transferase deficiency in the liver and faulty bilirubin conjugation. |
|
| DX |
19910101 |
|
| HN |
91(75); was see under HYPERBILIRUBINEMIA, HEREDITARY 1975-90 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Machine permutation |
91; was see under HYPERBILIRUBINEMIA, HEREDITARY 1975-90 |
|
| Mapped from | ||
| MDA |
19990101 |
|
| MMR |
20230426 |
|
| MN |
C16.320.565.300.281 C18.452.648.300.281 |
|
| notation |
D003414 |
|
| OL |
use HYPERBILIRUBINEMIA, HEREDITARY to search CRIGLER-NAJJAR SYNDROME 1966-74 |
|
| prefLabel |
Crigler-Najjar Syndrome |
|
| TERMUI |
T841215 T841217 T811473 T009940 T841216 T009939 T839574 |
|
| TH |
OMIM (2013) NLM (1975) UNK (19XX) GHR (2014) NLM (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |