Spondyloepiphyseal dysplasia with punctate corneal dystrophy

Preferred Label : Spondyloepiphyseal dysplasia with punctate corneal dystrophy;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 183850;

Détails

Origin ID

183850;

UMLS CUI

C1866727;

Broader ORDO disease(s)
- Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia [ORDO Disease]
Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia, Byers type [ICD-11 More detail]
- Spondyloepiphyseal dysplasia, Byers type [ORDO Disease]
- spondyloepiphyseal dysplasia with punctate corneal dystrophy [MeSH concept]
- spondyloepiphyseal dysplasia with punctate corneal dystrophy [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Punctate corneal dystrophy [HPO term]
- Spondyloepiphyseal dysplasia [HPO term]
Not associated HPO term(s)
- Visual loss [HPO term]
ORDO concept(s)
- Spondyloepiphyseal dysplasia, Byers type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondyloepiphyseal dysplasia, Byers type [ORDO Disease]
- Spondyloepiphyseal dysplasia, Byers type [ICD-11 More detail]
- spondyloepiphyseal dysplasia with punctate corneal dystrophy [MeSH Supplementary Concept]
- spondyloepiphyseal dysplasia with punctate corneal dystrophy [MeSH concept]

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