Spondylar and nasal alterations with striated metaphyses dysplasia

Preferred Label : Spondylar and nasal alterations with striated metaphyses dysplasia;

ICD-11 synonym : short limb dwarfism with saddle nose, spinal alterations and metaphyseal striation; SPONASTRIME - [spondylar and nasal alterations with striated metaphyses] dysplasia; SPONASTRIME dysplasia;

CISMeF acronym : SPONASTRIME;

Details

Origin ID

1251339461;

Currated CISMeF NLP mapping
- SPONASTRIME dysplasia [ORDO Disease]
- Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome [NCIt concept]
- Sponastrime dysplasia (disorder) [SNOMED CT concept]
- Spondyloepimetaphyseal Dysplasia, Sponastrime Type [NCIt concept]
- Spondyloepimetaphyseal dysplasia, sponastrime type [OMIM Phenotype]
- Spondyloepimetaphyseal dysplasia, sponastrime type [MeSH concept]
- spondyloepimetaphyseal dysplasia, Sponastrime type [DO Concept]
- spondyloepimetaphyseal dysplasia, sponastrime type [MeSH Supplementary Concept]

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