Crisponi syndrome

Preferred Label : Crisponi syndrome;

ICD-11 definition : Crisponi syndrome is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. Extensive paroxysmal muscular contractions in the face (resembling neonatal tetanus) develop after minimal stimuli. Frequent contractions of the oropharyngeal muscles associated with absence of the swallowing reflex lead to major feeding and respiratory difficulties.;

Details

Origin ID

1658600991;

Currated CISMeF NLP mapping
- Crisponi syndrome [MeSH concept]
- Crisponi syndrome [ORDO Disease]
- Crisponi syndrome [Disease (Nov.)]
- Crisponi syndrome (disorder) [SNOMED CT concept]
- crisponi syndrome [MeSH Supplementary Concept]
False automatic mappings
- Cold-induced sweating syndrome [ORDO Disease]
- Cold-induced sweating syndrome (disorder) [SNOMED CT concept]
- cold-induced sweating syndrome [DO Concept]
- cold-induced sweating syndrome [Disease (Nov.)]
See also inter- (CISMeF)
- Crisponi/cold-induced sweating syndrome 1 [OMIM Phenotype]
Validated automatic mappings to BTNT
- Crisponi/Cold-Induced Sweating Syndrome-1 [NCIt concept]

Keyword's position in hierarchy(ies) :

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