Jeune Syndrome

Preferred Label : Jeune Syndrome;

NCIt synonyms : Asphyxiating Thoracic Dystrophy;

NCIt definition : A rare autosomal recessive inherited syndrome characterized by a narrow thorax, micromelia, and respiratory disturbances which may lead to asphyxiation. It may be associated with bilateral microcystic renal disease which may lead to renal failure.;

Details

Origin ID

C84794;

UMLS CUI

C0265275;

Automatic exact mappings (from CISMeF team)
- Young syndrome [ICD-11 Subcategory]
- Young's syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Asphyxiating thoracic dysplasia [PASCAL descriptor]
- Asphyxiating thoracic dystrophy [ICD-11 Sub-sub category]
- Asphyxiating thoracic dystrophy [MedDRA Preferred Term]
- Jeune syndrome [MeSH concept]
- Jeune syndrome [ORDO Disease]
- Jeune thoracic dystrophy (disorder) [SNOMED CT concept]
- Jeune's syndrome [MedDRA LLT]
- Short-rib thoracic dysplasia 1 with or without polydactyly [OMIM Phenotype]
- asphyxiating thoracic dystrophy [DO Concept]
- asphyxiating thoracic dystrophy [Disease (Nov.)]
- asphyxiating thoracic dystrophy 1 [DO Concept]
- jeune syndrome [MeSH Supplementary Concept]
- jeune thoracic dystrophy [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Asphyxiating thoracic dysplasia [PASCAL descriptor]
- Asphyxiating thoracic dystrophy [MedDRA Preferred Term]
- Jeune syndrome [MeSH concept]
- Jeune syndrome [ORDO Disease]
- Jeune thoracic dystrophy (disorder) [SNOMED CT concept]
- Jeune's syndrome [MedDRA LLT]
- Short-rib thoracic dysplasia 1 with or without polydactyly [OMIM Phenotype]
- asphyxiating thoracic dystrophy [DO Concept]
- asphyxiating thoracic dystrophy [Disease (Nov.)]
- asphyxiating thoracic dystrophy 1 [DO Concept]
- jeune syndrome [MeSH Supplementary Concept]
- jeune thoracic dystrophy [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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