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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 ]

Synonyms: congenital TTP thrombotic thrombocytopenic purpura, hereditary familial TTP congenital ADAMTS13 deficiency Upshaw-Schulman syndrome congenital ADAMTS-13 deficiency congenital thrombotic thrombocytopenic purpura hereditary thrombotic thrombocytopenic purpura

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:373420004 (MONDO:equivalentTo)
  • Orphanet:93583 (OMIM:274150)
  • ICD10CM:M31.3 (Orphanet:93583/ntbt)
  • NCIT:C131657 (MONDO:equivalentTo)
  • GARD:9430 (Orphanet:93583)
  • ICD9:287.33 (MONDO:relatedTo)
  • OMIM:274150 (Orphanet:93583/e)
Subsets

gard_rare, ordo_clinical_subtype, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

https://omim.org/entry/274150

http://identifiers.org/snomedct/373420004

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

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

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005240

has related synonym

Microangiopathic hemolytic Anemia

thrombotic thrombocytopenic purpura, familial

TTP

Upshaw Factor, deficiency of

Schulman-Upshaw syndrome

USS

thrombotic thrombocytopenic purpura, congenital

Microangiopathic hemolytic Anaemia

thrombotic microangiopathy, familial

TTP, congenital

Microangiopathic hemolytic Anemia, congenital

id

MONDO:0010122

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010122