Crisponi/Cold-Induced Sweating Syndrome-1

Preferred Label : Crisponi/Cold-Induced Sweating Syndrome-1;

NCIt synonyms : Crisponi Syndrome; Sohar-Crisponi Syndrome; Cold-Induced Sweating Syndrome 1; CISS1;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the CRLF1 gene, encoding cytokine receptor-like factor 1. It is characterized by cold-induced sweating syndrome, dysmorphic features, poor sucking reflex, and temperature spikes presenting at infancy.;

Details

Origin ID

C173147;

UMLS CUI

C1848947;

Currated CISMeF NLP mapping
- Cold-Induced sweating syndrome 1 [MeSH concept]
- Crisponi syndrome [MeSH concept]
- Crisponi syndrome [ORDO Disease]
- Crisponi syndrome (disorder) [SNOMED CT concept]
- Crisponi/cold-induced sweating syndrome 1 [OMIM Phenotype]
- cold-induced sweating syndrome 1 [DO Concept]
- crisponi syndrome [MeSH Supplementary Concept]
See also inter- (CISMeF)
- cytokine receptor like factor 1 [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cold-Induced sweating syndrome 1 [MeSH concept]
- Crisponi/cold-induced sweating syndrome 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- Cold-induced sweating syndrome (disorder) [SNOMED CT concept]
- Crisponi syndrome [ICD-11 More detail]
- cold-induced sweating syndrome [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CRLF1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients