Episodic Pain Syndrome, Familial, 3

Preferred Label : Episodic Pain Syndrome, Familial, 3;

NCIt synonyms : FEPS3;

NCIt definition : A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age.;

Details

Origin ID

C125390;

UMLS CUI

C3809899;

Currated CISMeF NLP mapping
- Episodic pain syndrome, familial, 3 [OMIM Phenotype]
- familial episodic pain syndrome 3 [DO Concept]
DO Cross reference
- familial episodic pain syndrome 3 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Episodic pain syndrome, familial, 3 [OMIM Phenotype]
- familial episodic pain syndrome 3 [DO Concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SCN11A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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