Brachyolmia type 2

Preferred Label : Brachyolmia type 2;

ICD-11 definition : Brachyolmia, type 2 (Maroteaux type) is an autosomal recessive form of brachyolmia, a group of rare genetic skeletal disorders, characterized byshort trunk/short stature, generalized platyspondyly and rounding vertebral bodies.;

Details

Origin ID

707242905;

UMLS CUI

C3159322;

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

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