Greenberg dysplasia

Preferred Label : Greenberg dysplasia;

ICD-11 definition : Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.;

ICD-11 synonym : Hydrops - ectopic calcification - motheaten skeletal dysplasia; HEM - [Hydrops - ectopic calcification - motheaten] skeletal dysplasia; 3-beta-hydroxysterol delta-14-reductase deficiency; HEM skeletal dysplasia;

Details

Origin ID

1858458540;

UMLS CUI

C2931048;

Automatic exact mappings (from CISMeF team)
- Greenberg dysplasia [DO Concept]
Currated CISMeF NLP mapping
- Greenberg dysplasia [OMIM Phenotype]
- Greenberg dysplasia [ORDO Disease]
- Greenberg dysplasia (disorder) [SNOMED CT concept]
- HEM dysplasia [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Greenberg dysplasia [OMIM Phenotype]
- Greenberg dysplasia [ORDO Disease]
- Greenberg dysplasia [DO Concept]
- Greenberg dysplasia (disorder) [SNOMED CT concept]
- HEM dysplasia [MeSH concept]
- HEM dysplasia [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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