rasmussen johnsen thomsen syndrome

Preferred Label : rasmussen johnsen thomsen syndrome;

MeSH synonym : Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance;

Détails

Origin ID

C535290;

UMLS CUI

C2930867;

Currated CISMeF NLP mapping
- External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) [SNOMED CT concept]
- External auditory canal atresia-vertical talus-hypertelorism syndrome [ORDO Disease]
- External auditory canal, bilateral atresia of, with congenital vertical talus [OMIM Phenotype]
False automatic mappings
- External auditory canal, bilateral atresia of, with congenital vertical talus [OMIM Phenotype]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- ear canal [MeSH Descriptor]
- encephalitis [MeSH Descriptor]
- hypertelorism [MeSH Descriptor]
- talus [MeSH Descriptor]
ORDO relation(s)
- External auditory canal atresia-vertical talus-hypertelorism syndrome [ORDO Disease]
Record concept(s)
- Rasmussen Johnsen Thomsen syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) [SNOMED CT concept]
- External auditory canal atresia-vertical talus-hypertelorism syndrome [ORDO Disease]

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