riddle syndrome

Preferred Label : riddle syndrome;

MeSH note : mutation in RNF168;

MeSH synonym : radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties;

Details

Origin ID

C567453;

UMLS CUI

C2677792;

Automatic exact mappings (from CISMeF team)
- Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- RIDDLE syndrome [DO Concept]
- RIDDLE syndrome [ORDO Disease]
- Riddle syndrome [OMIM Phenotype]
DO Cross reference
- RIDDLE syndrome [DO Concept]
MeSH term(s) associated for indexing
- Learning Disabilities [MeSH Descriptor]
- Primary Immunodeficiency Diseases [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- immunologic deficiency syndromes [MeSH Descriptor]
Record concept(s)
- riddle syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- RIDDLE syndrome [DO Concept]
- RIDDLE syndrome [ORDO Disease]
- Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome (disorder) [SNOMED CT concept]
- Riddle syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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