Spondyloepiphyseal dysplasia, Maroteaux type

Preferred Label : Spondyloepiphyseal dysplasia, Maroteaux type;

ICD-11 definition : Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.;

Details

Origin ID

231279233;

UMLS CUI

C3159322;

Automatic exact mappings (from CISMeF team)
- spondyloepiphyseal dysplasia Maroteaux type [DO Concept]
Currated CISMeF NLP mapping
- Spondyloepiphyseal dysplasia Maroteaux type (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, Maroteaux type [ORDO Disease]
- Spondyloepiphyseal dysplasia, maroteaux type [OMIM Phenotype]
See also inter- (CISMeF)
- Brachyolmia - Maroteaux type (disorder) [SNOMED CT concept]
- Brachyolmia type 2 [OMIM Phenotype]
- Brachyolmia, Maroteaux type [ORDO Disease]
- brachyolmia type 2 [MeSH Supplementary Concept]
- brachyolmia type 2 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachyolmia - Maroteaux type (disorder) [SNOMED CT concept]
- Brachyolmia type 2 [OMIM Phenotype]
- Brachyolmia, Maroteaux type [ORDO Disease]
- Brachyolmia, Maroteaux type [MedDRA LLT]
- Spondyloepiphyseal dysplasia Maroteaux type (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, Maroteaux type [ORDO Disease]
- Spondyloepiphyseal dysplasia, maroteaux type [OMIM Phenotype]
- brachyolmia type 2 [MeSH concept]
- brachyolmia type 2 [MeSH Supplementary Concept]
- brachyolmia type 2 [Disease (Nov.)]
- spondyloepiphyseal dysplasia Maroteaux type [DO Concept]

Keyword's position in hierarchy(ies) :

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