brachyolmia type 2

Preferred Label : brachyolmia type 2;

Définition CISMeF : Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) 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.;

CISMeF synonym : spondyloepiphyseal dysplasia, maroteaux type;

MeSH synonym : brachyolmia, maroteaux type;

Details

Origin ID

C563218;

UMLS CUI

C5399913;

Automatic exact mappings (from CISMeF team)
- Brachyolmia, Maroteaux type [MedDRA LLT]
- spondyloepiphyseal dysplasia Maroteaux type [DO Concept]
CISMeF manual mappings
- Brachyolmia - Maroteaux type (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Brachyolmia type 2 [ICD-11 More detail]
- Brachyolmia type 2 [OMIM Phenotype]
- Brachyolmia, Maroteaux type [ORDO Disease]
- Spondyloepiphyseal dysplasia Maroteaux type (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, Maroteaux type [ORDO Disease]
- Spondyloepiphyseal dysplasia, maroteaux type [OMIM Phenotype]
- brachyolmia type 2 [Disease (Nov.)]
DO Cross reference
- spondyloepiphyseal dysplasia Maroteaux type [DO Concept]
MeSH term(s) associated for indexing
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- Spondyloepiphyseal Dysplasia, Maroteaux Type [MeSH concept]
- brachyolmia type 2 [MeSH concept]
See also inter- (CISMeF)
- Spondyloepiphyseal dysplasia, Maroteaux type [ICD-11 More detail]
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 type 2 [ICD-11 More detail]
- 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 [ICD-11 More detail]
- Spondyloepiphyseal dysplasia, maroteaux type [OMIM Phenotype]
- brachyolmia type 2 [Disease (Nov.)]
- spondyloepiphyseal dysplasia Maroteaux type [DO Concept]

Keyword's position in hierarchy(ies) :

Main resources

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