Opitz-Kaveggia syndrome

Preferred Label : Opitz-Kaveggia syndrome;

MeSH note : Mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum.;

MeSH synonym : keller syndrome; FG syndrome; mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum;

MeSH hyponym : FGS1;

Related MeSH term : Mental Retardation, X-Linked, With Nystagmus; Mental Retardation, X-Linked, Cask-Related;

Details

Origin ID

C537923;

UMLS CUI

C0220769;

Currated CISMeF NLP mapping
- FG Syndrome Type 1 [NCIt concept]
- FG syndrome [Disease (Nov.)]
- FG syndrome [DO Concept]
- FG syndrome [ICD-11 More detail]
- FG syndrome [ORDO Disease]
- FG syndrome (disorder) [SNOMED CT concept]
- FG syndrome type 1 [ORDO Disease]
- Fg syndrome [OMIM phenotypic series]
- Opitz-kaveggia syndrome [OMIM Phenotype]
- fg syndrome [SNOMED Notion]
DO Cross reference
- FG syndrome [DO Concept]
MeSH term(s) associated for indexing
- X-Linked Intellectual Disability [MeSH Descriptor]
- agenesis of corpus callosum [MeSH Descriptor]
- anus, imperforate [MeSH Descriptor]
- constipation [MeSH Descriptor]
- muscle hypotonia [MeSH Descriptor]
ORDO relation(s)
- FG syndrome [ORDO Disease]
- FG syndrome type 1 [ORDO Disease]
Record concept(s)
- FG syndrome 1 [MeSH concept]
- FG syndrome 2 [MeSH concept]
- FG syndrome 3 [MeSH concept]
- FG syndrome 4 [MeSH concept]
- Opitz-Kaveggia syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- FG syndrome [ORDO Disease]
- FG syndrome [DO Concept]
- FG syndrome [Disease (Nov.)]
- FG syndrome (disorder) [SNOMED CT concept]
- FG syndrome type 1 [ORDO Disease]
- Opitz-kaveggia syndrome [OMIM Phenotype]
- fg syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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