eiken skeletal dysplasia

Preferred Label : eiken skeletal dysplasia;

MeSH note : mutation in PTHR1;

MeSH synonym : bone modeling defect of hands and feet;

Origin ID

C564010;

UMLS CUI

C1838779;

Automatic exact mappings (from CISMeF team)
- Eiken syndrome [ICD-11 More detail]
- Eiken syndrome [DO Concept]
CISMeF manual mappings
- Eiken Type Chondrodysplasia [NCIt concept]
Currated CISMeF NLP mapping
- Eiken syndrome [Disease (Nov.)]
- Eiken syndrome [OMIM Phenotype]
- Eiken syndrome [ORDO Disease]
- Eiken syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Eiken syndrome [DO Concept]
MeSH term(s) associated for indexing
- foot deformities, congenital [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- eiken skeletal dysplasia [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Eiken syndrome [OMIM Phenotype]
- Eiken syndrome [ORDO Disease]
- Eiken syndrome [Disease (Nov.)]
- Eiken syndrome [DO Concept]
- Eiken syndrome (disorder) [SNOMED CT concept]