Spondylometaphyseal dysplasia, Algerian type

Preferred Label : Spondylometaphyseal dysplasia, Algerian type;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0530255;

UMLS CUI

C1866688;

Currated CISMeF NLP mapping
- Spondylometaphyseal dysplasia Schmidt type (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia, Schmidt type [ICD-11 More detail]
- Spondylometaphyseal dysplasia, Schmidt type [ORDO Disease]
- Spondylometaphyseal dysplasia, algerian type [OMIM Phenotype]
Has phenotype(s) (HPO)
- Dwarfism [HPO term]
- Proximal radial shortening [HPO term]
- Severe metaphyseal changes of long bones [HPO term]
- Small pelvis [HPO term]
Related record
- spondylometaphyseal dysplasia, algerian type [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylometaphyseal dysplasia Schmidt type (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia, Schmidt type [ORDO Disease]
- Spondylometaphyseal dysplasia, Schmidt type [ICD-11 More detail]
- Spondylometaphyseal dysplasia, algerian type [OMIM Phenotype]
- spondylometaphyseal dysplasia Algerian type [DO Concept]