Prader-willi habitus, osteopenia, and camptodactyly

Preferred Label : Prader-willi habitus, osteopenia, and camptodactyly;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Urban-rogers-meyer syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : 264010;

Details

Origin ID

264010;

UMLS CUI

C0796189;

Currated CISMeF NLP mapping
- Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) [SNOMED CT concept]
- Prader-Willi habitus, osteopenia, and camptodactyly [MeSH concept]
- Prader-Willi habitus, osteopenia, and camptodactyly [MeSH Supplementary Concept]
- Urban-Rogers-Meyer syndrome [ORDO Disease]
HPO term(s)
- Abnormality of the genital system [HPO term]
- Autosomal recessive inheritance [HPO term]
- Camptodactyly [HPO term]
- Enlarged epiphyses [HPO term]
- Intellectual disability [HPO term]
- Joint contracture of the hand [HPO term]
- Obesity [HPO term]
- Osteopenia [HPO term]
- Osteoporosis [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Urban-Rogers-Meyer syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder) [SNOMED CT concept]
- Prader-Willi habitus, osteopenia, and camptodactyly [MeSH Supplementary Concept]
- Prader-Willi habitus, osteopenia, and camptodactyly [MeSH concept]
- Urban-Rogers-Meyer syndrome [ORDO Disease]

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