jeune thoracic dystrophy

Preferred Label : jeune thoracic dystrophy;

Details

Origin ID

D4-00A14;

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 [NCIt concept]
- 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 [Disease (Nov.)]
- asphyxiating thoracic dystrophy [DO Concept]
- asphyxiating thoracic dystrophy 1 [DO Concept]
- jeune syndrome [MeSH Supplementary Concept]
ICD-10 exact mapping(s)
- Short rib syndrome [ICD-10 Sub-category (who)]
Manual NTBT mappings (CISMeF)
- Chondrodysplastic malformation syndrome [ORDO Disease]
- Ciliopathies with major skeletal involvement [ORDO Disease]
- Renal ciliopathy [ORDO Disease]
- Retinal ciliopathy [ORDO Disease]
- Syndromic renal or urinary tract malformation [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Jeune thoracic dystrophy (disorder) [SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- 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 [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 [Disease (Nov.)]
- asphyxiating thoracic dystrophy [DO Concept]
- asphyxiating thoracic dystrophy 1 [DO Concept]
- jeune syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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