Metaphyseal Chondrodysplasia, Jansen Type

Preferred Label : Metaphyseal Chondrodysplasia, Jansen Type;

Alternative definition : NICHD: A form of metaphyseal chondrodysplasia caused by mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by severe short stature, short bowed limbs, clinodactyly, prominent upper face, and a small mandible. Hypercalcemia and hypophosphatemia due to PTH resistance can appear later in childhood.;

Details

Origin ID

C131868;

UMLS CUI

C0265295;

Currated CISMeF NLP mapping
- Jansen type metaphyseal chondrodysplasia [MeSH concept]
- Jansen type of metaphyseal chondrodysplasia [Disease (Nov.)]
- Metaphyseal chondrodysplasia, Jansen type [ORDO Disease]
- Metaphyseal chondrodysplasia, Jansen type [ICD-11 More detail]
- Metaphyseal chondrodysplasia, Jansen type (disorder) [SNOMED CT concept]
- Metaphyseal chondrodysplasia, jansen type [OMIM Phenotype]
- jansen type metaphyseal chondrodysplasia [MeSH Supplementary Concept]
- metaphyseal chondrodysplasia, jansen type [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Jansen type metaphyseal chondrodysplasia [MeSH concept]
- Jansen type of metaphyseal chondrodysplasia [Disease (Nov.)]
- Metaphyseal chondrodysplasia, Jansen type [ORDO Disease]
- Metaphyseal chondrodysplasia, Jansen type [ICD-11 More detail]
- Metaphyseal chondrodysplasia, Jansen type (disorder) [SNOMED CT concept]
- Metaphyseal chondrodysplasia, jansen type [OMIM Phenotype]
- jansen type metaphyseal chondrodysplasia [MeSH Supplementary Concept]
- metaphyseal chondrodysplasia, jansen type [SNOMED Notion]
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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