Triosephosphate Isomerase Deficiency

Preferred Label : Triosephosphate Isomerase Deficiency;

NCIt synonyms : Triosephosphate-Isomerase Deficiency; TP1 Deficiency;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the TPI1 gene, encoding triosephosphate isomerase. It is characterized by congenital hemolytic anemia and progressive neuromuscular dysfunction.;

Alternative definition : NICHD: A rare, autosomal recessive, inherited disorder caused by mutation of the TPI1 gene. It is characterized by hemolytic anemia and severe, progressive neuromuscular dysfunction beginning in early childhood.;

Details

Origin ID

C131652;

UMLS CUI

C1860808;

Currated CISMeF NLP mapping
- Triose phosphate isomerase deficiency (disorder) [SNOMED CT concept]
- Triose phosphate-isomerase deficiency [ORDO Disease]
- Triosephosphate isomerase 1 [OMIM Phenotype]
- Triosephosphate isomerase deficiency [OMIM Phenotype]
- triosephosphate isomerase deficiency [DO Concept]
- triosephosphate isomerase deficiency [MeSH Supplementary Concept]
- triosephosphate isomerase deficiency [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)
- Triosephosphate isomerase deficiency [OMIM Phenotype]
- triosephosphate isomerase deficiency [DO Concept]
- triosephosphate isomerase deficiency [MeSH Supplementary Concept]
- triosephosphate isomerase deficiency [MeSH concept]
Validated automatic mappings to BTNT
- Haemolytic anaemia due to triose phosphate-isomerase deficiency [ICD-11 More detail]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
disease_has_finding
- Hereditary Lesion [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
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- TPI1 Gene [NCIt concept]

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