arthrogryposis multiplex congenita whistling face

Preferred Label : arthrogryposis multiplex congenita whistling face;

MeSH synonym : illium syndrome; lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system; illum syndrome; arthrogryposis multiplex congenita with whistling face;

Details

Origin ID

C538401;

UMLS CUI

C1859711;

Automatic exact mappings (from CISMeF team)
- Arthrogryposis multiplex congenita with whistling face [ICD-11 More detail]
CISMeF manual mappings
- Arthrogryposis multiplex congenita and whistling face syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Arthrogryposis multiplex congenita-whistling face syndrome [ORDO Disease]
- Illum syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- arthrogryposis [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
ORDO relation(s)
- Arthrogryposis multiplex congenita-whistling face syndrome [ORDO Disease]
Record concept(s)
- Arthrogryposis multiplex congenita whistling face [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arthrogryposis multiplex congenita and whistling face syndrome (disorder) [SNOMED CT concept]
- Arthrogryposis multiplex congenita-whistling face syndrome [ORDO Disease]
- Illum syndrome [OMIM Phenotype]

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