Brachyolmia type 3

Preferred Label : Brachyolmia type 3;

ICD-11 definition : Brachyolmia type 3 is an autosomal dominant,mildly severe form of brachyolmia, a group of rare genetic skeletal disorders, and is characterized by short stature, platyspondyly and severe kyphoscoliosis.;

Details

Origin ID

589025803;

UMLS CUI

C0432227;

Automatic exact mappings (from CISMeF team)
- Brachyrachia [MedDRA LLT]
Currated CISMeF NLP mapping
- Autosomal dominant brachyolmia [ORDO Disease]
- Autosomal dominant brachyolmia (disorder) [SNOMED CT concept]
- Brachyolmia type 3 [OMIM Phenotype]
- brachyolmia type 3 [MeSH Supplementary Concept]
- brachyolmia type 3 [MeSH concept]
- brachyolmia type 3 [Disease (Nov.)]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant brachyolmia [ORDO Disease]
- Autosomal dominant brachyolmia [MedDRA LLT]
- Autosomal dominant brachyolmia (disorder) [SNOMED CT concept]
- Brachyolmia type 3 [OMIM Phenotype]
- Brachyrachia [MedDRA LLT]
- Brachyrachia (short spine dysplasia) (disorder) [SNOMED CT concept]
- brachyolmia type 3 [MeSH concept]
- brachyolmia type 3 [MeSH Supplementary Concept]
- brachyolmia type 3 [Disease (Nov.)]

Keyword's position in hierarchy(ies) :

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