absent radii and thrombocytopenia

Preferred Label : absent radii and thrombocytopenia;

MeSH synonym : thrombocytopenia absent radius syndrome; Thrombocytopenia-Absent radius syndrome; chromosome 1q21.1 deletion syndrome, 200-Kb; radial Aplasia-Thrombocytopenia syndrome; TAR syndrome; thrombocytopenia absent radii; radial Aplasia-Amegakaryocytic thrombocytopenia;

Details

Origin ID

C536940;

UMLS CUI

C0175703;

Automatic exact mappings (from CISMeF team)
- Thrombocytopaenia - absent radius [ICD-11 More detail]
Currated CISMeF NLP mapping
- Radial Aplasia-Thrombocytopenia Syndrome [NCIt concept]
- Radial aplasia-thrombocytopenia syndrome (disorder) [SNOMED CT concept]
- TAR syndrome [MedDRA LLT]
- TAR syndrome [Disease (Nov.)]
- Thrombocytopenia-absent radius syndrome [MedDRA Preferred Term]
- Thrombocytopenia-absent radius syndrome [OMIM Phenotype]
- Thrombocytopenia-absent radius syndrome [ORDO Disease]
- thrombocytopenia-absent radius syndrome [DO Concept]
DO Cross reference
- thrombocytopenia-absent radius syndrome [DO Concept]
MeSH term(s) associated for indexing
- Congenital Bone Marrow Failure Syndromes [MeSH Descriptor]
- radius [MeSH Descriptor]
- thrombocytopenia [MeSH Descriptor]
- upper extremity deformities, congenital [MeSH Descriptor]
Record concept(s)
- Absent radii and thrombocytopenia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Radial Aplasia-Thrombocytopenia Syndrome [NCIt concept]
- Radial aplasia-thrombocytopenia syndrome (disorder) [SNOMED CT concept]
- TAR syndrome [MedDRA LLT]
- TAR syndrome [Disease (Nov.)]
- Thrombocytopenia-absent radius syndrome [MedDRA Preferred Term]
- Thrombocytopenia-absent radius syndrome [OMIM Phenotype]
- Thrombocytopenia-absent radius syndrome [ORDO Disease]
- radial aplasia-thrombocytopenia syndrome [SNOMED Notion]
- thrombocytopenia-absent radius syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

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