Short rib syndrome

Preferred Label : Short rib syndrome;

Inclusion CIM-10 : Asphyxiating thoracic dysplasia [Jeune];

Diag associé à un acte (%) : 46.6;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q772;

UMLS CUI

C0432195;

Currated CISMeF NLP mapping
- Ciliopathies with major skeletal involvement [ORDO Disease]
- Short rib dysplasia (disorder) [SNOMED CT concept]
- Short rib syndromes [ICD-11 Subcategory]
DO Cross reference
- asphyxiating thoracic dystrophy [DO Concept]
- asphyxiating thoracic dystrophy 1 [DO Concept]
- asphyxiating thoracic dystrophy 2 [DO Concept]
- asphyxiating thoracic dystrophy 3 [DO Concept]
- asphyxiating thoracic dystrophy 4 [DO Concept]
- asphyxiating thoracic dystrophy 5 [DO Concept]
- short-rib thoracic dysplasia 10 with or without polydactyly [DO Concept]
- short-rib thoracic dysplasia 11 with or without polydactyly [DO Concept]
- short-rib thoracic dysplasia 13 with or without polydactyly [DO Concept]
- short-rib thoracic dysplasia 6 with or without polydactyly [DO Concept]
- short-rib thoracic dysplasia 7 with or without polydactyly [DO Concept]
- short-rib thoracic dysplasia 8 with or without polydactyly [DO Concept]
Excluded by
- Other congenital malformations of ribs [ICD-10 Sub-category]
Orphanet concepts
- Ciliopathies with major skeletal involvement [ORDO Disease]
- Jeune syndrome [ORDO Disease]
- NEK9-related lethal skeletal dysplasia [ORDO Disease]
- Short rib-polydactyly syndrome [ORDO Disease]
- Short rib-polydactyly syndrome, Beemer-Langer type [ORDO Disease]
- Short rib-polydactyly syndrome, Majewski type [ORDO Disease]
- Short rib-polydactyly syndrome, Saldino-Noonan type [ORDO Disease]
- Short rib-polydactyly syndrome, Verma-Naumoff type [ORDO Disease]
- Thoracolaryngopelvic dysplasia [ORDO Disease]
- Thoracomelic dysplasia [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Ciliopathies with major skeletal involvement [ORDO Disease]
- Short rib dysplasia (disorder) [SNOMED CT concept]
- Short rib syndromes [ICD-11 Subcategory]
Validated automatic mappings to BTNT
- Asphyxiating thoracic dystrophy [ICD-11 Sub-sub category]
- Short rib-polydactyly syndrome [ICD-11 Sub-sub category]
- asphyxiating thoracic dystrophy [DO Concept]
- asphyxiating thoracic dystrophy 1 [DO Concept]
- asphyxiating thoracic dystrophy 2 [DO Concept]
- asphyxiating thoracic dystrophy 3 [DO Concept]
- short-rib thoracic dysplasia 10 with or without polydactyly [DO Concept]
- short-rib thoracic dysplasia 11 with or without polydactyly [DO Concept]
- short-rib thoracic dysplasia 13 with or without polydactyly [DO Concept]
- short-rib thoracic dysplasia 6 with or without polydactyly [DO Concept]
- short-rib thoracic dysplasia 7 with or without polydactyly [DO Concept]
- short-rib thoracic dysplasia 8 with or without polydactyly [DO Concept]

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