Eiken Type Chondrodysplasia

Preferred Label : Eiken Type Chondrodysplasia;

Alternative definition : NICHD: An autosomal recessive skeletal dysplasia caused by mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by severely delayed skeletal maturation, as well as by abnormal modeling of the bones in the hands and feet, abnormal persistence of cartilage in the pelvis, and mild growth retardation. Calcium and phosphate concentrations are normal.;

NCI Metathesaurus CUI : CL514491;

Details

Origin ID

C131811;

UMLS CUI

C4329784;

CISMeF manual mappings
- Eiken syndrome [Disease (Nov.)]
- eiken skeletal dysplasia [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Eiken syndrome [OMIM Phenotype]
- Eiken syndrome [ORDO Disease]
- Eiken syndrome (disorder) [SNOMED CT concept]
- eiken skeletal dysplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PTH1R Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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