roifman syndrome

Preferred Label : roifman syndrome;

MeSH synonym : spondyloepiphseal dysplasia, retinal dystrophy, and antibody deficiency;

Origin ID

C535866;

UMLS CUI

C1846059;

CISMeF manual mappings
- Roifman syndrome [OMIM Phenotype]
Currated CISMeF NLP mapping
- Roifman syndrome [ORDO Disease]
- Roifman syndrome [OMIM Phenotype]
- Roifman syndrome (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- Hypoplasia of the middle phalanges of the hand [HPO term]
- Recurrent pneumonia [HPO term]
- Short-trunk dwarfism, identifiable in infancy [HPO term]
- Small 3rd and 4th metacarpals [HPO term]
- Small, irregular proximal femoral epiphyses [HPO term]
- Upturned nose [HPO term]
MeSH term(s) associated for indexing
- Primary Immunodeficiency Diseases [MeSH Descriptor]
- X-Linked Intellectual Disability [MeSH Descriptor]
- cardiomyopathies [MeSH Descriptor]
- immunologic deficiency syndromes [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
- retinal diseases [MeSH Descriptor]
Record concept(s)
- Roifman syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Roifman syndrome [OMIM Phenotype]
- Roifman syndrome [ORDO Disease]
- Roifman syndrome [OMIM Phenotype]
- Roifman syndrome (disorder) [SNOMED CT concept]