pseudodiastrophic dysplasia

Preferred Label : pseudodiastrophic dysplasia;

MeSH synonym : pseudodiastrophic dwarfism;

Is substance : O;

Origin ID

C535826;

UMLS CUI

C0432206;

Automatic exact mappings (from CISMeF team)
- Pseudodiastrophic dwarfism [PASCAL descriptor]
Currated CISMeF NLP mapping
- Pseudodiastrophic dysplasia [ICD-11 More detail]
- Pseudodiastrophic dysplasia [OMIM Phenotype]
- Pseudodiastrophic dysplasia [ORDO Disease]
- Pseudodiastrophic dysplasia (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- Rhizomelic shortening [HPO term]
MeSH term(s) associated for indexing
- dwarfism [MeSH Descriptor]
- heart defects, congenital [MeSH Descriptor]
- hernia, umbilical [MeSH Descriptor]
ORDO relation(s)
- Pseudodiastrophic dysplasia [ORDO Disease]
Record concept(s)
- Pseudodiastrophic dysplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudodiastrophic dysplasia [ORDO Disease]
- Pseudodiastrophic dysplasia [OMIM Phenotype]
- Pseudodiastrophic dysplasia (disorder) [SNOMED CT concept]