fountain syndrome

Preferred Label : fountain syndrome;

MeSH synonym : mental retardation-deafnes, skeletal abnormalities, coarse face with full lips; mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips;

Details

Origin ID

C537270;

UMLS CUI

C0795944;

Automatic exact mappings (from CISMeF team)
- Deafness - skeletal dysplasia - lip granuloma [ICD-11 More detail]
- Fountain syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) [SNOMED CT concept]
- Fountain syndrome [OMIM Phenotype]
- Fountain syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Full lips [HPO term]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- bone diseases, developmental [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- deafness [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
ORDO relation(s)
- Fountain syndrome [ORDO Disease]
Record concept(s)
- Fountain syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) [SNOMED CT concept]
- Fountain syndrome [ORDO Disease]
- Fountain syndrome [OMIM Phenotype]
- Fountain syndrome [MedDRA Preferred Term]

Keyword's position in hierarchy(ies) :

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