short rib-polydactyly syndrome

Preferred Label : short rib-polydactyly syndrome;

MeSH definition : A syndrome inherited as an autosomal recessive trait and incompatible with life. The main features are narrow thorax, short ribs, scapular and pelvic dysplasia, and polydactyly.;

MeSH synonym : short rib-polydactyly syndromes; short rib polydactyly syndrome;

CISMeF synonym : syndrome, Saldino-Noonan; syndrome, majewski;

DeCS synonym : Short Rib-Polydactyly Syndrome, Majewski Type; Short Rib-Polydactyly Syndrome, Saldino-Noonan Type; Short Rib Polydactyly Syndrome, Saldino Noonan Type; Short Rib Polydactyly Syndrome, Majewski Type;

MeSH hyponym : Saldino-Noonan syndrome; majewski syndrome; Saldino Noonan Syndrome; Polydactyly with Neonatal Chondrodystrophy, Type 1; Short Rib-Polydactyly Syndrome, Type I; Short Rib Polydactyly Syndrome, Type I; Asphyxiating Thoracic Dystrophy 3; Polydactyly With Neonatal Chondrodystrophy, Type I; Short Rib-Polydactyly Syndrome, Saldino-Noonan Type; Short Rib Polydactyly Syndrome, Saldino Noonan Type; Short Rib-Polydactyly Syndrome Type 1; Short Rib Polydactyly Syndrome Type 1; Short Rib-Polydactyly Syndrome, Type II; Short Rib Polydactyly Syndrome, Type II; Polydactyly With Neonatal Chondrodystrophy, Type II; Short Rib-Polydactyly Syndrome, Majewski Type; Short Rib Polydactyly Syndrome, Majewski Type; Polydactyly with Neonatal Chondrodystrophy, Type 2;

MeSH annotation : do not confuse entry term SALDINO-NOONAN SYNDROME with NOONAN SYNDROME;

Wikipedia link : https://en.wikipedia.org/wiki/Short rib-polydactyly syndrome type 1;

Details

Origin ID

D012779;

UMLS CUI

C0036996;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Ciliopathies with major skeletal involvement [ORDO Disease]
- Majewski syndrome [PASCAL descriptor]
- Saldino-Noonan syndrome [PASCAL descriptor]
- 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 [ICD-11 More detail]
- Short rib-polydactyly syndrome, Verma-Naumoff type [ORDO Disease]
- Short rib-polydactyly syndrome, non-Majewski type (disorder) [Inactive SNOMED CT concept]
- Short rib-polydactyly syndrome, type iib [OMIM Phenotype]
- Short rib-polydactyly syndrome, type iii [OMIM Phenotype]
- Short-Rib Thoracic Dysplasia 6 with or without Polydactyly [NCIt concept]
- asphyxiating thoracic dystrophy 3 [DO Concept]
- short rib-polydactyly syndrome, majewski type [SNOMED Notion]
- short rib-polydactyly syndrome, non-majewski type [SNOMED Notion]
- short-rib thoracic dysplasia 6 with or without polydactyly [DO Concept]
Currated CISMeF NLP mapping
- Short Rib-Polydactyly Syndrome [NCIt concept]
- Short rib polydactyly syndrome (disorder) [SNOMED CT concept]
- Short rib-polydactyly syndrome [ICD-11 Sub-sub category]
- Short rib-polydactyly syndrome [ORDO Disease]
- short rib polydactyly syndromes [Disease (Nov.)]
False UMLS correspondences (reviewed by CISMeF team)
- short rib-polydactyly syndrome, non-majewski type [SNOMED Notion]
Manual NTBT mappings (CISMeF)
- Chondrodysplastic malformation syndrome [ORDO Disease]
- Ciliopathies with major skeletal involvement [ORDO Disease]
- Syndromic anorectal malformation [ORDO Disease]
- Thoracic malformation [ORDO Disease]
Ne pas confondre avec
- noonan syndrome [MeSH Descriptor]
ORDO relation(s)
- Short rib-polydactyly syndrome [ORDO Disease]
Record concept(s)
- Saldino-Noonan syndrome [MeSH concept]
- majewski syndrome [MeSH concept]
- short Rib-Polydactyly syndrome [MeSH concept]
Related MeSH Supplementary Concept(s)
- short rib-polydactyly syndrome, Verma-Naumoff type [MeSH Supplementary Concept]
- short rib-polydactyly syndrome, beemer type [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Short rib-polydactyly syndrome, Beemer-Langer type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Short Rib-Polydactyly Syndrome [NCIt concept]
- Short rib polydactyly syndrome (disorder) [SNOMED CT concept]
- Short rib-polydactyly syndrome [ORDO Disease]
- Short rib-polydactyly syndrome [ICD-11 Sub-sub category]
- short rib polydactyly syndromes [Disease (Nov.)]
Validated automatic mappings to BTNT
- Saldino-Noonan syndrome [DO Concept]
- Short rib polydactyly syndrome type I (disorder) [SNOMED CT concept]
- Short rib-polydactyly syndrome, Majewski type [ICD-11 More detail]
- Short rib-polydactyly syndrome, Majewski type (disorder) [SNOMED CT concept]
- Short rib-polydactyly syndrome, Saldino-Noonan type [ICD-11 More detail]
- Short rib-polydactyly syndrome, Verma-Naumoff type [ORDO Disease]
- Short rib-polydactyly syndrome, type i [OMIM Phenotype]
- Short-rib thoracic dysplasia 12 [OMIM Phenotype]
- Short-rib thoracic dysplasia 3 with or without polydactyly [OMIM Phenotype]
- Short-rib thoracic dysplasia 6 with or without polydactyly [OMIM Phenotype]
- Type IV short rib polydactyly syndrome (disorder) [SNOMED CT concept]

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