crisponi syndrome

Preferred Label : crisponi syndrome;

MeSH note : Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death;

CISMeF acronym : CISS;

MeSH synonym : CNTF Receptor-Related disorders; Cold-Induced sweating syndrome; Sohar-Crisponi syndrome;

MeSH hyponym : Sweating, cold-induced;

Détails

Origin ID

C536214;

UMLS CUI

C1832409;

Automatic exact mappings (from CISMeF team)
- CRLF1 wt Allele [NCIt concept]
- Cold-induced sweating [HPO term]
- cytokine receptor like factor 1 [ORDO Gene]
- cytokine receptor like factor 1 [HGNC gene]
Currated CISMeF NLP mapping
- Cold-induced sweating syndrome [ORDO Disease]
- Cold-induced sweating syndrome [ICD-11 More detail]
- Cold-induced sweating syndrome [OMIM phenotypic series]
- Crisponi syndrome [Disease (Nov.)]
- Crisponi syndrome [ICD-11 More detail]
- Crisponi syndrome [ORDO Disease]
- Crisponi syndrome (disorder) [SNOMED CT concept]
- Crisponi/Cold-Induced Sweating Syndrome-1 [NCIt concept]
- cold-induced sweating syndrome [Disease (Nov.)]
DO Cross reference
- cold-induced sweating syndrome [DO Concept]
False automatic mappings
- cold-induced sweating syndrome [DO Concept]
Has phenotype(s) (HPO)
- Chubby cheeks [HPO term]
- Feeding difficulties [HPO term]
MeSH term(s) associated for indexing
- death, sudden [MeSH Descriptor]
- facies [MeSH Descriptor]
- fever [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- hyperhidrosis [MeSH Descriptor]
- muscle contraction [MeSH Descriptor]
- trismus [MeSH Descriptor]
ORDO relation(s)
- Crisponi syndrome [ORDO Disease]
Record concept(s)
- Cold-Induced sweating syndrome 1 [MeSH concept]
- Cold-Induced sweating syndrome 2 [MeSH concept]
- Crisponi syndrome [MeSH concept]
See also inter- (CISMeF)
- Cold-induced sweating syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cold-induced sweating syndrome (disorder) [SNOMED CT concept]
- Crisponi syndrome [ORDO Disease]
- Crisponi syndrome [Disease (Nov.)]
- Crisponi syndrome (disorder) [SNOMED CT concept]
- cold-induced sweating syndrome [DO Concept]
- cold-induced sweating syndrome [Disease (Nov.)]
Validated automatic mappings to BTNT
- Crisponi/cold-induced sweating syndrome 1 [OMIM Phenotype]

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