Autosomal recessive omodysplasia

Preferred Label : Autosomal recessive omodysplasia;

ICD-11 definition : Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.;

Details

Origin ID

350802889;

Currated CISMeF NLP mapping
- Autosomal recessive omodysplasia [ORDO Disease]
- Autosomal recessive omodysplasia (disorder) [SNOMED CT concept]
- Omodysplasia 1 [OMIM Phenotype]
- Omodysplasia I (disorder) [Inactive SNOMED CT concept]
- Omodysplasia type 1 [MeSH concept]
- omodysplasia type 1 [MeSH Supplementary Concept]

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