jeune syndrome

Preferred Label : jeune syndrome;

Obsolete resource : false;

CISMeF synonym : asphyxiating thoracic dystrophy 1;

CISMeF acronym : ATD;

MeSH synonym : thoracic pelvic phalangeal dystrophy; infantile thoracic dystrophy; jeune's syndrome; asphyxiating thoracic dystrophy; chondroectodermal dysplasia-like syndrome; Thoracic-Pelvic-Phalangeal dystrophy; jeune thoracic dysplasia; jeune thoracic dystrophy; thoracic asphyxiant dystrophy; asphyxiating thoracic dystrophy (ATD); asphyxiating thoracic chondrodystrophy; asphyxiating thoracic dysplasia;

Details

Origin ID

C537571;

UMLS CUI

C0265275;

Automatic exact mappings (from CISMeF team)
- ATM wt Allele [NCIt concept]
- Ataxia-telangiectasia [OMIM Phenotype]
- 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 [NCIt 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.)]
- jeune thoracic dystrophy [SNOMED Notion]
MeSH term(s) associated for indexing
- Ellis-Van creveld syndrome [MeSH Descriptor]
ORDO relation(s)
- Jeune syndrome [ORDO Disease]
Record concept(s)
- Asphyxiating Thoracic Dystrophy 1 [MeSH concept]
- Jeune syndrome [MeSH concept]
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 [NCIt 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 thoracic dystrophy [SNOMED Notion]
Validated automatic mappings to BTNT
- asphyxiating thoracic dystrophy 1 [DO Concept]

Keyword's position in hierarchy(ies) :

Main resources

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