Fryns-Aftimos syndrome

Preferred Label : Fryns-Aftimos syndrome;

MeSH synonym : mental retardation with epilepsy and characteristic facies; cerebrooculofacial lymphatic syndrome; pachygyria, mental retardation, epilepsy, and characteristic facies;

Détails

Origin ID

C565258;

UMLS CUI

C1853623;

Automatic exact mappings (from CISMeF team)
- Baraitser-winter syndrome 1 [OMIM Phenotype]
- Iris coloboma with ptosis, hypertelorism, and mental retardation (disorder) [SNOMED CT concept]
- Pachygyria - epilepsy - intellectual deficit - dysmorphism [ICD-11 More detail]
Currated CISMeF NLP mapping
- Cerebro-oculo-facial-lymphatic syndrome [ORDO Disease]
- Fryns-aftimos syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- craniofacial abnormalities [MeSH Descriptor]
- epilepsy [MeSH Descriptor]
- facies [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- lissencephaly [MeSH Descriptor]
Record concept(s)
- Fryns-Aftimos syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Baraitser Winter syndrome [Disease (Nov.)]
- Baraitser-Winter syndrome [DO Concept]
- Cerebro-oculo-facial-lymphatic syndrome [ORDO Disease]
- Fryns-aftimos syndrome [OMIM Phenotype]
- Iris coloboma with ptosis, hypertelorism, and mental retardation (disorder) [SNOMED CT concept]

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