Pseudodiastrophic dysplasia

Preferred Label : Pseudodiastrophic dysplasia;

Symbol : PDD;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 264180;

Details

Origin ID

264180;

UMLS CUI

C0432206;

Currated CISMeF NLP mapping
- Pseudodiastrophic dysplasia [ICD-11 More detail]
- Pseudodiastrophic dysplasia [MeSH concept]
- Pseudodiastrophic dysplasia [ORDO Disease]
- Pseudodiastrophic dysplasia (disorder) [SNOMED CT concept]
- pseudodiastrophic dysplasia [MeSH Supplementary Concept]
HPO term(s)
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue sclerae [HPO term]
- Brachycephaly [HPO term]
- Camptodactyly [HPO term]
- Elbow dislocation [HPO term]
- Failure to thrive [HPO term]
- Fever [HPO term]
- Frontal bossing [HPO term]
- Hypoplasia of the odontoid process [HPO term]
- Lumbar hyperlordosis [HPO term]
- Malar flattening [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Phalangeal dislocation [HPO term]
- Platyspondyly [HPO term]
- Recurrent infections [HPO term]
- Rhizomelia [HPO term]
- Rhizomelic shortening [HPO term]
- Scoliosis [HPO term]
- Severe short stature [HPO term]
- Short neck [HPO term]
- Smooth philtrum [HPO term]
- Talipes equinovarus [HPO term]
- Tongue-like lumbar vertebral deformities [HPO term]
- Webbed neck [HPO term]
ORDO concept(s)
- Pseudodiastrophic dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudodiastrophic dysplasia [ORDO Disease]
- Pseudodiastrophic dysplasia [MeSH concept]
- Pseudodiastrophic dysplasia (disorder) [SNOMED CT concept]
- pseudodiastrophic dysplasia [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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