Brachyolmia type 2

Preferred Label : Brachyolmia type 2;

Symbol : BCYM2;

CISMeF acronym : BCYM2;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Brachyolmia, maroteaux type;

Description : The term 'brachyolmia' was coined to designate a bone dysplasia characterized clinically by short trunk dwarfism and radiographically by generalized platyspondyly without significant long bone abnormalities. The Maroteaux type of brachyolmia is an autosomal recessive form in which there is rounding of the anterior and posterior vertebral borders, with less elongation on lateral view and less lateral extension on anteroposterior view than is seen in the Hobaek type of brachyolmia (271530). Maroteaux brachyolmia may also be associated with precocious calcification of the falx cerebri, and minor facial anomalies (summary by Shohat et al., 1989). For a discussion of genetic heterogeneity of brachyolmia, see 271530.;

Inheritance : Autosomal recessive;

Prefixed ID : %613678;

Details

Origin ID

613678;

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, Maroteaux type [ORDO Disease]
- brachyolmia type 2 [Disease (Nov.)]
- brachyolmia type 2 [MeSH concept]
- brachyolmia type 2 [MeSH Supplementary Concept]
DO Cross reference
- brachyolmia [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Platyspondyly [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Brachyolmia, Maroteaux type [ORDO Disease]
See also inter- (CISMeF)
- Spondyloepiphyseal dysplasia Maroteaux type (disorder) [SNOMED CT concept]
- Spondyloepiphyseal dysplasia, Maroteaux type [ICD-11 More detail]
- Spondyloepiphyseal dysplasia, Maroteaux type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachyolmia - Maroteaux type (disorder) [SNOMED CT concept]
- 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]
- brachyolmia type 2 [MeSH Supplementary Concept]
- brachyolmia type 2 [MeSH concept]
- brachyolmia type 2 [Disease (Nov.)]
- spondyloepiphyseal dysplasia Maroteaux type [DO Concept]

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