Spondylometaphyseal dysplasia, X-linked

Preferred Label : Spondylometaphyseal dysplasia, X-linked;

Symbol : SMDXL;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Spondylometaphyseal dysplasia, richmond type;

Inheritance : X-linked dominant;

Prefixed ID : %313420;

Details

Origin ID

313420;

UMLS CUI

C0796172;

Currated CISMeF NLP mapping
- Spondylometaphyseal dysplasia Golden type (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia, Golden type [ICD-11 More detail]
- Spondylometaphyseal dysplasia, Golden type [ORDO Disease]
- spondylometaphyseal dysplasia, X-Linked [MeSH concept]
- spondylometaphyseal dysplasia, X-Linked [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of the nail [HPO term]
- Anteverted nares [HPO term]
- Coarse facial features [HPO term]
- Depressed nasal bridge [HPO term]
- Dwarfism [HPO term]
- Enlarged joints [HPO term]
- Flattened nasal bridge [HPO term]
- Hip contracture [HPO term]
- Hyperextensibility of the finger joints [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability, mild [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Kyphosis [HPO term]
- Marked sclerosis of skull base [HPO term]
- Mild global developmental delay [HPO term]
- Neurological speech impairment [HPO term]
- Nystagmus [HPO term]
- Pectus carinatum [HPO term]
- Platyspondyly [HPO term]
- Respiratory failure [HPO term]
- Respiratory insufficiency [HPO term]
- Sclerosis of skull base [HPO term]
- Severe short stature [HPO term]
- Short finger [HPO term]
- Spondylometaphyseal dysplasia [HPO term]
- Strabismus [HPO term]
- Tapered finger [HPO term]
- Thoracolumbar scoliosis [HPO term]
- Wide nasal bridge [HPO term]
- X-linked dominant inheritance [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Spondylometaphyseal dysplasia, Golden type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spondylometaphyseal dysplasia Golden type (disorder) [SNOMED CT concept]
- Spondylometaphyseal dysplasia, Golden type [ORDO Disease]
- Spondylometaphyseal dysplasia, Golden type [ICD-11 More detail]
- spondylometaphyseal dysplasia, X-Linked [MeSH Supplementary Concept]
- spondylometaphyseal dysplasia, X-Linked [MeSH concept]

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