Spondylometaphyseal dysplasias

ICD-11 code : LD24.4;

Preferred Label : Spondylometaphyseal dysplasias;

ICD-11 definition : Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life. The disorders are characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. The different forms of spondylometaphyseal dysplasia are distinguished by the localization and severity of involvement of the affected metaphyses.;

Details

Origin ID

181781948;

UMLS CUI

C4759767;

Automatic exact mappings (from CISMeF team)
- Spondylometaphyseal dysplasia [OMIM phenotypic series]
Currated CISMeF NLP mapping
- Spondylometaphyseal dysplasia [HPO term]
- Spondylometaphyseal dysplasia [ORDO Disease]
- Spondylometaphyseal dysplasia [ACR pathology]
- Spondylometaphyseal dysplasia (disorder) [SNOMED CT concept]
ICD-10 Mapping
- Other osteochondrodysplasia with defects of growth of tubular bones and spine [ICD-10 Sub-category]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylometaphyseal dysplasia [ACR pathology]
- Spondylometaphyseal dysplasia [HPO term]
- Spondylometaphyseal dysplasia (disorder) [SNOMED CT concept]
Validated automatic mappings to BTNT
- Spondyloepimetaphyseal dysplasia, strudwick type [OMIM Phenotype]
- kozlowski spondylometaphyseal dysplasia [SNOMED Notion]
- strudwick syndrome [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Osteochondrodysplasia co-occurrent with defects of growth of tubular bones and spine (disorder) [SNOMED CT concept]
- Other osteochondrodysplasia with defects of growth of tubular bones and spine [ICD-10 Sub-category]

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