Fountain syndrome

Preferred Label : Fountain syndrome;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Mental retardation, sensorineural deafness, skeletal abnormalities, and coarse face with full lips;

Inheritance : Autosomal recessive;

Prefixed ID : %229120;

Details

Origin ID

229120;

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 [MeSH concept]
- Fountain syndrome [ORDO Disease]
- fountain syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Broad distal phalanx of finger [HPO term]
- Broad palm [HPO term]
- Coarse facial features [HPO term]
- Facial edema [HPO term]
- Full lips [HPO term]
- Intellectual disability [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short palm [HPO term]
- Short stature [HPO term]
- Thick lower lip vermilion [HPO term]
- Thickened calvaria [HPO term]
ORDO concept(s)
- Fountain syndrome [ORDO Disease]
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 [MeSH concept]
- Fountain syndrome [MedDRA Preferred Term]
- fountain syndrome [MeSH Supplementary Concept]

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