Blomstrand Type Chondrodysplasia

Preferred Label : Blomstrand Type Chondrodysplasia;

Alternative definition : NICHD: An autosomal recessive lethal condition caused by inactivating mutation(s) in the PTH1R gene, encoding parathyroid hormone/parathyroid hormone-related peptide receptor. This condition is characterized by short limbs, polyhydramnios, hydrops fetalis, facial anomalies, increased bone density, and advanced skeletal maturation.;

Details

Origin ID

C131420;

UMLS CUI

C1859148;

Currated CISMeF NLP mapping
- Blomstrand lethal chondrodysplasia [ORDO Disease]
- Blomstrand lethal chondrodysplasia [ICD-11 More detail]
- Blomstrand osteochondrodysplasia [Disease (Nov.)]
- Chondrodysplasia, blomstrand type [MeSH concept]
- Chondrodysplasia, blomstrand type [OMIM Phenotype]
- chondrodysplasia Blomstrand type [DO Concept]
- chondrodysplasia, blomstrand type [MeSH Supplementary Concept]
DO Cross reference
- chondrodysplasia Blomstrand type [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Blomstrand lethal chondrodysplasia [ORDO Disease]
- Blomstrand lethal chondrodysplasia [ICD-11 More detail]
- Blomstrand osteochondrodysplasia [Disease (Nov.)]
- Chondrodysplasia, blomstrand type [OMIM Phenotype]
- Chondrodysplasia, blomstrand type [MeSH concept]
- chondrodysplasia Blomstrand type [DO Concept]
- chondrodysplasia, blomstrand type [MeSH Supplementary Concept]
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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