Metaphyseal dysplasia

Preferred Label : Metaphyseal dysplasia;

Inclusion CIM-10 : Pyle's syndrome;

Rare : true;

Diag associé à un acte (%) : 75.0;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q785;

UMLS CUI

C5194606;

Currated CISMeF NLP mapping
- Metaphyseal dysplasia [MedDRA Preferred Term]
- Metaphyseal dysplasia [HPO term]
- Metaphyseal dysplasia [ICD-10 Sub-category (who)]
- 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 [Disease (Nov.)]
- metaphyseal dysplasia [DO Concept]
- pyle disease [MeSH Supplementary Concept]
- pyle metaphyseal dysplasia [SNOMED Notion]
Orphanet concepts
- Frontometaphyseal dysplasia [ORDO Disease]
- Metaphyseal acroscyphodysplasia [ORDO Disease]
- Metaphyseal anadysplasia [ORDO Disease]
- Metaphyseal chondrodysplasia, Jansen type [ORDO Disease]
- Metaphyseal chondrodysplasia, Kaitila type [ORDO Disease]
- Metaphyseal chondrodysplasia, Schmid type [ORDO Disease]
- Metaphyseal chondrodysplasia, Spahr type [ORDO Disease]
- Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome [ORDO Disease]
- Metaphyseal dysplasia without hypotrichosis [ORDO Disease]
- Metaphyseal dysplasia, Braun-Tinschert type [ORDO Disease]
- Multiple metaphyseal dysplasia [ORDO Disease]
- Pyle disease [ORDO Disease]
- Ulna metaphyseal dysplasia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Metaphyseal dysplasia [MedDRA Preferred Term]
- Metaphyseal dysplasia [HPO term]
- Pyle disease [OMIM Phenotype]
- Pyle disease [MeSH concept]
- Pyle disease [ORDO Disease]
- Pyle disease [ICD-11 More detail]
- 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 BTNT
- Multiple metaphyseal dysplasias [ICD-11 Subcategory]
- Pyle disease [ICD-11 More detail]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients