Spondyloepiphyseal dysplasia tarda with impaired intellectual development

Preferred Label : Spondyloepiphyseal dysplasia tarda with impaired intellectual development;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Sedt with mental retardation; Spondyloepiphyseal dysplasia tarda with mental retardation;

Inheritance : Autosomal recessive;

Prefixed ID : 271620;

Détails

Origin ID

271620;

UMLS CUI

C1849053;

Broader ORDO disease(s)
- Spondyloepiphyseal dysplasia tarda [ORDO Disease]
Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia tarda Kohn type (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia tarda, Kohn type [ICD-11 More detail]
- Spondyloepiphyseal dysplasia tarda, Kohn type [ORDO Disease]
- spondyloepiphyseal dysplasia tarda with mental retardation [MeSH concept]
- spondyloepiphyseal dysplasia tarda with mental retardation [MeSH Supplementary Concept]
HPO term(s)
- Anterior beaking of lumbar vertebrae [HPO term]
- Anterior tongue-like protrusion of lumbar vertebral bodies [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coxa valga [HPO term]
- Intellectual disability [HPO term]
- Platyspondyly [HPO term]
- Short greater sciatic notch [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
- Spondyloepiphyseal dysplasia tarda [HPO term]
ORDO concept(s)
- Spondyloepiphyseal dysplasia tarda, Kohn type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepiphyseal dysplasia tarda, Kohn type [ORDO Disease]
- spondyloepiphyseal dysplasia tarda with intellectual disability [DO Concept]
- spondyloepiphyseal dysplasia tarda with mental retardation [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia tarda with mental retardation [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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