spherocytosis, type 1

Preferred Label : spherocytosis, type 1;

MeSH note : aka SPH1; HS1 not included; mutations in ANK1;

CISMeF synonym : Hs1; hereditary spherocytosis;

MeSH synonym : Sph1; spherocytosis, hereditary, 1; congenital spherocytosis; spherocytic anemia; congenital spherocytic hemolytic anemia;

Details

Origin ID

C567159;

UMLS CUI

C2674218;

Automatic exact mappings (from CISMeF team)
- ANK1 wt Allele [NCIt concept]
- Anemia spherocytic [MedDRA LLT]
- EEF1A2 wt Allele [NCIt concept]
- Hematopoietic cell-specific lyn substrate 1 [OMIM gene]
- Hereditary spherocytosis [ORDO Disease]
- Hereditary spherocytosis [ICD-10 Sub-category (who)]
- Hereditary spherocytosis [MedDRA Preferred Term]
- Hereditary spherocytosis [ICD-11 More detail]
- Hereditary spherocytosis (disorder) [SNOMED CT concept]
- SNCAIP wt Allele [NCIt concept]
- Spherocytic anemia [PASCAL descriptor]
- Spherocytic anemia [MedDRA LLT]
- Synphilin-1 [NCIt concept]
- Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta isoform [OMIM gene]
- YWHAQ wt Allele [NCIt concept]
- ankyrin 1 [ORDO Gene]
- eukaryotic translation elongation factor 1 alpha 2 [ORDO Gene]
- hereditary spherocytosis [DO Concept]
- hereditary spherocytosis type 1 [DO Concept]
- hereditary spherocytosis, nos [SNOMED Notion]
Currated CISMeF NLP mapping
- Spherocytosis, type 1 [OMIM Phenotype]
MeSH term(s) associated for indexing
- ankyrins [MeSH Descriptor]
- spherocytosis, hereditary [MeSH Descriptor]
Record concept(s)
- spherocytosis, type 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spherocytosis, type 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Hereditary Spherocytosis [NCIt concept]
- hereditary spherocytosis [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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