Pearson Syndrome

Preferred Label : Pearson Syndrome;

NCIt related terms : Pearson Marrow-Pancreas Syndrome;

NCIt definition : The most severe syndrome in the spectrum of single, large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs), usually presenting shortly after birth with sideroblastic anemia. The condition is often associated with exocrine pancreas insufficiency and multi-system dysfunction including diabetes mellitus, cortisol deficiency, hypothyroidism, hypoparathyroidism, and growth hormone deficiency. Commonly associated clinical findings include the following: failure to thrive, hypotonia, ptosis, ophthalmoparesis, and renal disease.;

Details

Origin ID

C115326;

UMLS CUI

C0342784;

Automatic exact mappings (from CISMeF team)
- Congenital hypoplastic anaemia [ICD-11 Category]
- Pearson syndrome [MeSH concept]
- VLCAD deficiency [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Pearson marrow-pancreas syndrome [OMIM Phenotype]
- Pearson syndrome [DO Concept]
- Pearson syndrome [ORDO Disease]
- Pearson syndrome [ICD-11 More detail]
- Pearson syndrome [Disease (Nov.)]
- Pearson's syndrome [MedDRA Preferred Term]
- Pearson's syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pearson marrow-pancreas syndrome [OMIM Phenotype]
- Pearson syndrome [ORDO Disease]
- Pearson syndrome [DO Concept]
- Pearson syndrome [ICD-11 More detail]
- Pearson's syndrome [MedDRA Preferred Term]
- Pearson's syndrome (disorder) [SNOMED CT concept]
- VLCAD deficiency [MeSH concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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