Fryns-aftimos syndrome

Preferred Label : Fryns-aftimos syndrome;

Obsolete resource : true;

Moved to : 243310;

Alternative titles and symbols : Pachygyria, mental retardation, epilepsy, and characteristic facies; Cerebrooculofacial lymphatic syndrome; Cofl syndrome; Mental retardation with epilepsy and characteristic facies;

Inheritance : Isolated cases;

Prefixed ID : 606155;

Details

Origin ID

606155;

UMLS CUI

C1853623;

Currated CISMeF NLP mapping
- Cerebro-oculo-facial-lymphatic syndrome [ORDO Disease]
- Fryns-Aftimos syndrome [MeSH concept]
- Fryns-Aftimos syndrome [MeSH Supplementary Concept]
HPO term(s)
- Epilepsy [HPO term]
- High-arched palate [HPO term]
- Hypoplastic pinna [HPO term]
- Isolated cases [HPO term]
- Walking on tiptoes [HPO term]
ORDO concept(s)
- Cerebro-oculo-facial-lymphatic syndrome [ORDO Disease]
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 [MeSH Supplementary Concept]
- Fryns-Aftimos syndrome [MeSH concept]
- Iris coloboma with ptosis, hypertelorism, and mental retardation (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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