Hereditary Pyropoikilocytosis

Preferred Label : Hereditary Pyropoikilocytosis;

NCIt definition : An autosomal recessive inherited severe hemolytic anemia. It is a subtype of hereditary elliptocytosis and is characterized by partial spectrin deficiency.;

Alternative definition : NICHD: An autosomal recessive disorder that produces a molecular defect in spectrin and a partial spectrin deficiency. It manifests as a severe hemolytic anemia in infancy with thermal instability of the erythrocytes. It is clinically similar to, and now considered a subtype of, homozygous hereditary elliptocytosis.;

Details

Origin ID

C98943;

UMLS CUI

C0520739;

Automatic exact mappings (from CISMeF team)
- Hereditary pyropoikilocytosis [MedDRA LLT]
Currated CISMeF NLP mapping
- Hereditary pyropoikilocytosis [ORDO Disease]
- Hereditary pyropoikilocytosis [ICD-11 More detail]
- Hereditary pyropoikilocytosis (disorder) [SNOMED CT concept]
- Piropoikilocytosis [PASCAL descriptor]
- Pyropoikilocytosis [HPO term]
- Pyropoikilocytosis, hereditary [OMIM Phenotype]
- hereditary pyropoikilocytosis [SNOMED Notion]
- hereditary pyropoikilocytosis [Disease (Nov.)]
- pyropoikilocytosis, hereditary [MeSH concept]
- pyropoikilocytosis, hereditary [MeSH Supplementary Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary pyropoikilocytosis [ORDO Disease]
- Hereditary pyropoikilocytosis [ICD-11 More detail]
- Hereditary pyropoikilocytosis [MedDRA LLT]
- Hereditary pyropoikilocytosis (disorder) [SNOMED CT concept]
- Piropoikilocytosis [PASCAL descriptor]
- Pyropoikilocytosis [HPO term]
- Pyropoikilocytosis, hereditary [OMIM Phenotype]
- hereditary pyropoikilocytosis [SNOMED Notion]
- hereditary pyropoikilocytosis [Disease (Nov.)]
- pyropoikilocytosis, hereditary [MeSH Supplementary Concept]
- pyropoikilocytosis, hereditary [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network 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]

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