Pyle disease - CISMeF

Preferred Label : Pyle disease;

ICD-11 definition : Pyle disease is a bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an 'Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning.;

ICD-11 synonym : Pyle syndrome;

Details

Origin ID

651364947;

UMLS CUI

C0265294;

Automatic exact mappings (from CISMeF team)
- Pyle metaphyseal dysplasia [PASCAL descriptor]
Currated CISMeF NLP mapping
- Pyle disease [MeSH concept]
- Pyle disease [OMIM Phenotype]
- Pyle disease [ORDO Disease]
- Pyle metaphyseal dysplasia (disorder) [SNOMED CT concept]
- Pyle's disease [MedDRA LLT]
- pyle disease [MeSH Supplementary Concept]
- pyle metaphyseal dysplasia [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metaphyseal dysplasia [HPO term]
- Metaphyseal dysplasia [ICD-10 Sub-category]
- Metaphyseal dysplasia [MedDRA Preferred Term]
- Pyle disease [OMIM Phenotype]
- Pyle disease [MeSH concept]
- Pyle disease [ORDO Disease]
- Pyle metaphyseal dysplasia (disorder) [SNOMED CT concept]
- Pyle's disease [MedDRA LLT]
- metaphyseal dysplasia [DO Concept]
- metaphyseal dysplasia [Disease (Nov.)]
- pyle disease [MeSH Supplementary Concept]
- pyle metaphyseal dysplasia [SNOMED Notion]
Validated automatic mappings to NTBT
- Metaphyseal dysplasia [MedDRA Preferred Term]
- Metaphyseal dysplasia [ICD-10 Sub-category]
- Metaphyseal dysplasia [ICD-10 Sub-category (who)]
- Metaphyseal dysplasia [HPO term]
- metaphyseal dysplasia [DO Concept]
- metaphyseal dysplasia [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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