congenital thrombotic thrombocytopenic purpura

Go to external page http://purl.obolibrary.org/obo/MONDO_0010122


Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity. [ Orphanet:93583 ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:274150 (Orphanet:93583)
  • ICD10:M31.3 (Orphanet:93583)
  • ICD9:287.33 (i2s)
  • NCIT:C131657 (MONDO:equivalentTo)
  • GARD:0009430 (Orphanet-shared)
  • SCTID:373420004 (MONDO:equivalentTo)
  • Orphanet:93583 (OMIM:274150)
Subsets

ordo_clinical_subtype

abbreviation
USS [ GARD:0009430 ]

closeMatch

http://linkedlifedata.com/resource/umls/id/C1956258

http://linkedlifedata.com/resource/umls/id/C1268935

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/hereditary.yaml

definition

Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.

exactMatch

http://identifiers.org/snomedct/373420004

http://purl.obolibrary.org/obo/NCIT_C131657

http://identifiers.org/omim/274150

http://www.orpha.net/ORDO/Orphanet_93583

has exact synonym

congenital TTP

familial TTP

congenital ADAMTS13 deficiency

Upshaw-Schulman syndrome

congenital ADAMTS-13 deficiency

hereditary thrombotic thrombocytopenic purpura

has related synonym

Microangiopathic hemolytic Anemia

TTP

thrombotic thrombocytopenic purpura, familial

USS

Schulman-Upshaw syndrome

Upshaw Factor, deficiency of

thrombotic thrombocytopenic purpura, congenital

thrombotic microangiopathy, familial

TTP, congenital

Microangiopathic hemolytic Anemia, congenital

id

MONDO:0010122