Craniofacial dysostosis with diaphyseal hyperplasia

Preferred Label : Craniofacial dysostosis with diaphyseal hyperplasia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Osteosclerosis, stanescu type;

Inheritance : Autosomal dominant;

Prefixed ID : 122900;

Details

Origin ID

122900;

UMLS CUI

C0432263;

Currated CISMeF NLP mapping
- Dysostosis, Stanescu type [ORDO Disease]
- Osteosclerosis - Stanescu type (disorder) [SNOMED CT concept]
- craniofacial dysostosis with diaphyseal hyperplasia [MeSH concept]
- craniofacial dysostosis with diaphyseal hyperplasia [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Craniofacial dysostosis [HPO term]
- Kyphoscoliosis [HPO term]
- Limb undergrowth [HPO term]
- Massively thickened long bone cortices [HPO term]
- Microcephaly [HPO term]
- Micromelia [HPO term]
- Pectus excavatum [HPO term]
- Proptosis [HPO term]
- Short stature [HPO term]
- Thin calvarium [HPO term]
ORDO concept(s)
- Dysostosis, Stanescu type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dysostosis, Stanescu type [ORDO Disease]
- Osteosclerosis - Stanescu type (disorder) [SNOMED CT concept]
- craniofacial dysostosis with diaphyseal hyperplasia [MeSH Supplementary Concept]
- craniofacial dysostosis with diaphyseal hyperplasia [MeSH concept]

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