3C syndrome - CISMeF

Preferred Label : 3C syndrome;

Définition CISMeF : Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.;

MeSH synonym : craniocerebellocardiac dysplasia; ritscher schinzel syndrome; Dandy-Walker-like malformation with atrioventricular septal defect; CCC dysplasia; Ritscher-Schinzel syndrome;

Details

Origin ID

C535313;

UMLS CUI

C0796137;

Automatic exact mappings (from CISMeF team)
- Ritscher-schinzel syndrome [OMIM phenotypic series]
CISMeF manual mappings
- Dandy Walker like syndrome [Disease (Nov.)]
Currated CISMeF NLP mapping
- 3C syndrome [ORDO Disease]
- Cranio-cerebello-cardiac dysplasia syndrome (disorder) [SNOMED CT concept]
- Ritscher-Schinzel syndrome [DO Concept]
- Ritscher-schinzel syndrome 1 [OMIM Phenotype]
DO Cross reference
- Ritscher-Schinzel syndrome [DO Concept]
MeSH term(s) associated for indexing
- Dandy-Walker syndrome [MeSH Descriptor]
- abnormalities, multiple [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- heart septal defects, atrial [MeSH Descriptor]
ORDO relation(s)
- 3C syndrome [ORDO Disease]
Record concept(s)
- 3C syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3C syndrome [ORDO Disease]
- Cranio-cerebello-cardiac dysplasia syndrome (disorder) [SNOMED CT concept]
- Dandy Walker like syndrome [Disease (Nov.)]
- Ritscher-Schinzel syndrome [DO Concept]
- Ritscher-schinzel syndrome 1 [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

Main resources

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