Radial Aplasia-Thrombocytopenia Syndrome

Preferred Label : Radial Aplasia-Thrombocytopenia Syndrome;

NCIt synonyms : Chromosome 1q21.1 Deletion Syndrome, 200-Kb; TAR;

NCIt related terms : TAR Syndrome; Thrombocytopenia-Absent Radius Syndrome;

NCIt definition : A rare syndrome characterized by the presence of thrombocytopenia associated with bilateral absence of the radius bone.;

Alternative definition : NICHD: A rare syndrome characterized by the presence of thrombocytopenia associated with bilateral absence of the radii.;

Détails

Origin ID

C99038;

UMLS CUI

C0175703;

Automatic exact mappings (from CISMeF team)
- Tar [ICD-11 Extension code]
- Tar (substance) [SNOMED CT concept]
- Thrombocytopaenia - absent radius [ICD-11 More detail]
- tars [MeSH Descriptor]
Currated CISMeF NLP mapping
- Absent radii and thrombocytopenia [MeSH 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]
- absent radii and thrombocytopenia [MeSH Supplementary Concept]
- radial aplasia-thrombocytopenia syndrome [SNOMED Notion]
- thrombocytopenia-absent radius syndrome [DO Concept]
DO Cross reference
- thrombocytopenia-absent radius syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Absent radii and thrombocytopenia [MeSH 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]
- absent radii and thrombocytopenia [MeSH Supplementary Concept]
- radial aplasia-thrombocytopenia syndrome [SNOMED Notion]
- thrombocytopenia-absent radius syndrome [DO Concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 1 [NCIt concept]
disease_mapped_to_gene
- RBM8A Gene [NCIt concept]
related_to_genetic_biomarker
- RBM8A Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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