Congenital Thrombotic Thrombocytopenic Purpura

Preferred Label : Congenital Thrombotic Thrombocytopenic Purpura;

NCIt synonyms : Congenital ADAMTS-13 Deficiency;

NCIt related terms : Congenital ADAMTS13 Deficiency; Congenital TTP;

Alternative definition : NICHD: Thrombotic thrombocytopenic purpura for which the cause is present from birth.;

NCI Metathesaurus CUI : CL496074;

Details

Origin ID

C131657;

UMLS CUI

C1268935;

Automatic exact mappings (from CISMeF team)
- purpura, thrombotic thrombocytopenic [MeSH Descriptor]
Currated CISMeF NLP mapping
- Congenital thrombotic thrombocytopenic purpura [ORDO Disease]
- Thrombotic thrombocytopenic purpura, hereditary [OMIM Phenotype]
- Upshaw-Schulman syndrome (disorder) [SNOMED CT concept]
- congenital thrombotic thrombocytopenic purpura [MeSH concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital thrombotic thrombocytopenic purpura [ORDO Disease]
- Thrombotic thrombocytopenic purpura, hereditary [OMIM Phenotype]
- Upshaw-Schulman syndrome (disorder) [SNOMED CT concept]
- congenital thrombotic thrombocytopenic purpura [MeSH concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_finding
- Low ADAMTS13 Activity [NCIt concept]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Blood Vessel [NCIt concept]
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- ADAMTS13 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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