perniola krajewska carnevale syndrome

Preferred Label : perniola krajewska carnevale syndrome;

MeSH synonym : congenital alopecia, psychomotor retardation, convulsions; neuroectodermosis with alopecia or hypotrichosis;

Details

Origin ID

C536660;

UMLS CUI

C2931280;

Currated CISMeF NLP mapping
- Alopecia and intellectual disability syndrome (disorder) [SNOMED CT concept]
- Alopecia-intellectual disability syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- alopecia [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- seizures [MeSH Descriptor]
Record concept(s)
- Perniola Krajewska Carnevale syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Alopecia and intellectual disability syndrome (disorder) [SNOMED CT concept]
- Alopecia-intellectual disability syndrome [ORDO Disease]

Keyword's position in hierarchy(ies) :

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