Paroxysmal Extreme Pain Disorder

Preferred Label : Paroxysmal Extreme Pain Disorder;

NCIt definition : A very rare, autosomal dominant inherited disorder caused by mutations in the SCN9A gene. It is characterized by skin redness and flushing and attacks of severe pain. The pain attacks usually last seconds to minutes.;

Details

Origin ID

C125385;

UMLS CUI

C1833661;

Automatic exact mappings (from CISMeF team)
- Paroxysmal extreme pain disorder [MedDRA Preferred Term]
- paroxysmal extreme pain disorder [DO Concept]
Currated CISMeF NLP mapping
- Paroxysmal extreme pain disorder [OMIM Phenotype]
- Paroxysmal extreme pain disorder [ORDO Disease]
- Paroxysmal extreme pain disorder [ICD-11 More detail]
- Paroxysmal extreme pain disorder (disorder) [SNOMED CT concept]
- paroxysmal extreme pain disorder [MeSH concept]
- paroxysmal extreme pain disorder [MeSH Supplementary Concept]
DO Cross reference
- paroxysmal extreme pain disorder [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Paroxysmal extreme pain disorder [ORDO Disease]
- Paroxysmal extreme pain disorder [OMIM Phenotype]
- Paroxysmal extreme pain disorder [ICD-11 More detail]
- Paroxysmal extreme pain disorder [MedDRA Preferred Term]
- Paroxysmal extreme pain disorder (disorder) [SNOMED CT concept]
- paroxysmal extreme pain disorder [MeSH Supplementary Concept]
- paroxysmal extreme pain disorder [MeSH concept]
- paroxysmal extreme pain disorder [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SCN9A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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