Pelvis-shoulder dysplasia

Preferred Label : Pelvis-shoulder dysplasia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Kosenow syndrome; Scapuloiliac dysostosis;

Inheritance : Autosomal dominant;

Prefixed ID : 169550;

Details

Origin ID

169550;

UMLS CUI

C1868508;

Currated CISMeF NLP mapping
- Pelvis shoulder dysplasia (disorder) [SNOMED CT concept]
- Pelvis-Shoulder dysplasia [MeSH concept]
- Pelvis-Shoulder dysplasia [MeSH Supplementary Concept]
- Pelvis-shoulder dysplasia [ORDO Disease]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Back pain [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Congenital hip dislocation [HPO term]
- Corneal opacity [HPO term]
- Hypoplastic acetabulae [HPO term]
- Hypoplastic clavicles [HPO term]
- Hypoplastic ilia [HPO term]
- Hypoplastic scapulae [HPO term]
- Iris coloboma [HPO term]
- Lumbar hyperlordosis [HPO term]
- Microphthalmia [HPO term]
- Opacification of the corneal stroma [HPO term]
- Optic disc coloboma [HPO term]
- Short clavicles [HPO term]
- Short stature [HPO term]
- Spina bifida occulta [HPO term]
ORDO concept(s)
- Pelvis-shoulder dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pelvis shoulder dysplasia (disorder) [SNOMED CT concept]
- Pelvis-Shoulder dysplasia [MeSH Supplementary Concept]
- Pelvis-Shoulder dysplasia [MeSH concept]
- Pelvis-shoulder dysplasia [ORDO Disease]

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