loading...| Preferred Name |
Purpura, Thrombotic Thrombocytopenic |
| Synonyms |
Schulman Upshaw Syndrome |
| Definitions |
An acquired, congenital, or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. Clinical features include THROMBOCYTOPENIA; HEMOLYTIC ANEMIA; AZOTEMIA; FEVER; and thrombotic microangiopathy. The classical form also includes neurological symptoms and end-organ damage, such as RENAL FAILURE. Mutations in the ADAMTS13 PROTEIN gene have been identified in familial cases. |
| ID |
http://purl.bioontology.org/ontology/MESH/D011697 |
| altLabel |
Schulman Upshaw Syndrome Thrombopenic Purpura, Thrombotic Familial Thrombotic Microangiopathy Schulman-Upshaw Syndrome Congenital Thrombotic Thrombocytopenic Purpura Upshaw Schulman Syndrome Thrombotic Thrombocytopenic Purpura, Familial Thrombotic Thrombocytopenic Purpura, Congenital Microangiopathic Hemolytic Anemia, Congenital Thrombotic Thrombopenic Purpura Upshaw Factor, Deficiency of Thrombotic Microangiopathy, Familial Upshaw-Schulman Syndrome Microangiopathy, Familial Thrombotic Thrombocytopenic Purpura, Thrombotic Purpura, Thrombotic Thrombopenic Familial Thrombotic Thrombocytopenia Purpura Thrombotic Thrombocytopenic Purpura Moschkowitz Disease Moschcowitz Disease Familial Thrombotic Thrombocytopenic Purpura |
| AQL |
BL CF CI CL CN 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 |
C1268935 C1956258 C0034155 |
| DC |
1 |
| definition |
An acquired, congenital, or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. Clinical features include THROMBOCYTOPENIA; HEMOLYTIC ANEMIA; AZOTEMIA; FEVER; and thrombotic microangiopathy. The classical form also includes neurological symptoms and end-organ damage, such as RENAL FAILURE. Mutations in the ADAMTS13 PROTEIN gene have been identified in familial cases. |
| DX |
19650101 |
| HN |
1986; use PURPURA, THROMBOTIC THROMBOPENIC 1965-1985 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 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/Q000151 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000196 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 SIB |
http://purl.bioontology.org/ontology/MESH/D004211 http://purl.bioontology.org/ontology/MESH/D020151 http://purl.bioontology.org/ontology/MESH/D020016 http://purl.bioontology.org/ontology/MESH/D016553 |
| Machine permutation |
1986; see PURPURA, THROMBOTIC THROMBOPENIC 1965-1985 |
| Mapped from | |
| MDA |
19990101 |
| MMR |
20180614 |
| MN |
C15.378.100.802.687.680 C23.550.414.950.687.680 C15.378.140.855.925.750.680 C23.888.885.687.687.680 C15.378.925.850 |
| notation |
D011697 |
| prefLabel |
Purpura, Thrombotic Thrombocytopenic |
| TERMUI |
T034587 T034585 T781563 T781565 T750374 T750375 T679350 T679351 T812539 T679329 T679352 T842588 T034586 T843443 T781564 |
| TH |
NLM (2008) UNK (19XX) NLM (1992) NLM (2010) NLM (1964) NLM (2014) NLM (2012) ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |
| subClassOf |