Roifman-Chitayat syndrome

Preferred Label : Roifman-Chitayat syndrome;

MeSH synonym : combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay;

Details

Origin ID

C567641;

UMLS CUI

C2750068;

Currated CISMeF NLP mapping
- Combined immunodeficiency with faciooculoskeletal anomalies [ORDO Disease]
- Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) [SNOMED CT concept]
- Roifman-chitayat syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- Primary Immunodeficiency Diseases [MeSH Descriptor]
- bone diseases, developmental [MeSH Descriptor]
- developmental disabilities [MeSH Descriptor]
- facies [MeSH Descriptor]
- immunologic deficiency syndromes [MeSH Descriptor]
- optic nerve diseases [MeSH Descriptor]
Record concept(s)
- Roifman-Chitayat syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined immunodeficiency with faciooculoskeletal anomalies [ORDO Disease]
- Combined immunodeficiency with faciooculoskeletal anomalies syndrome (disorder) [SNOMED CT concept]
- Roifman-chitayat syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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