rhizomelic dysplasia patterson lowry type

Preferred Label : rhizomelic dysplasia patterson lowry type;

MeSH synonym : Patterson-Lowry rhizomelic dysplasia; patterson lowry syndrome; rhizomelic dysplasia, Patterson-Lowry type;

Détails

Origin ID

C537609;

UMLS CUI

C1832359;

Currated CISMeF NLP mapping
- Rhizomelic dysplasia of Patterson Lowry type (disorder) [SNOMED CT concept]
- Rhizomelic dysplasia, Patterson-Lowry type [ICD-11 More detail]
- Rhizomelic dysplasia, Patterson-Lowry type [ORDO Disease]
- Rhizomelic dysplasia, patterson-lowry type [OMIM Phenotype]
Has phenotype(s) (HPO)
- Rhizomelic shortening [HPO term]
- Short humeri [HPO term]
MeSH term(s) associated for indexing
- bone diseases, developmental [MeSH Descriptor]
- femur [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- humerus [MeSH Descriptor]
- pelvis [MeSH Descriptor]
- spine [MeSH Descriptor]
ORDO relation(s)
- Rhizomelic dysplasia, Patterson-Lowry type [ORDO Disease]
Record concept(s)
- Rhizomelic dysplasia Patterson Lowry type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rhizomelic dysplasia of Patterson Lowry type (disorder) [SNOMED CT concept]
- Rhizomelic dysplasia, Patterson-Lowry type [ORDO Disease]
- Rhizomelic dysplasia, Patterson-Lowry type [ICD-11 More detail]
- Rhizomelic dysplasia, patterson-lowry type [OMIM Phenotype]

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