Blomstrand lethal chondrodysplasia

Preferred Label : Blomstrand lethal chondrodysplasia;

ICD-11 definition : Blomstrand's lethal chondrodysplasia is a rare severe skeletal dysplasia characterized by early lethality, advanced bone maturation and accelerated chondrocyte differentiation. Infants with BLC are typically born prematurely. They present with a severe dysmorphic syndrome characterized by extremely short limbs.;

Details

Origin ID

1147450651;

UMLS CUI

C1859148;

Currated CISMeF NLP mapping
- Blomstrand Type Chondrodysplasia [NCIt concept]
- Blomstrand lethal chondrodysplasia [ORDO Disease]
- 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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Blomstrand Type Chondrodysplasia [NCIt concept]
- Blomstrand lethal chondrodysplasia [ORDO Disease]
- 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]

Keyword's position in hierarchy(ies) :

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