Roifman syndrome

Preferred Label : Roifman syndrome;

Obsolete resource : true;

Moved to : 616651;

Alternative titles and symbols : Spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency;

Description : Roifman syndrome is a multisystem disorder characterized by growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy, distinctive facial dysmorphism, and immunodeficiency (summary by de Vries et al., 2006). Roifman and Melamed (2003) compared the features of Roifman syndrome with those of Schimke immunoosseous dysplasia (242900), ADA deficiency (102700), cartilage-hair hypoplasia (250250), and a novel syndrome of combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia (607944).;

Inheritance : X-linked recessive;

Prefixed ID : 300258;

Details

Origin ID

300258;

UMLS CUI

C1846059;

Currated CISMeF NLP mapping
- Roifman syndrome [ORDO Disease]
- Roifman syndrome [MeSH concept]
- Roifman syndrome (disorder) [SNOMED CT concept]
- roifman syndrome [MeSH Supplementary Concept]
HPO term(s)
- 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]
ORDO concept(s)
- Roifman syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Roifman syndrome [MeSH concept]
- Roifman syndrome [ORDO Disease]
- Roifman syndrome (disorder) [SNOMED CT concept]
- roifman syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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