Short rib-polydactyly syndrome, type i

Preferred Label : Short rib-polydactyly syndrome, type i;

Obsolete resource : true;

Moved to : 613091;

Alternative titles and symbols : Srps1; Srps, type i; Saldino-noonan syndrome; Polydactyly with neonatal chondrodystrophy, type i;

Description : The short rib-polydactyly syndromes (SRPS) are a group of autosomal recessive lethal skeletal dysplasias characterized by markedly short ribs, short limbs, polydactyly, and multiple anomalies of major organs, including heart, intestines, genitalia, kidney, liver, and pancreas. There is phenotypic overlap in various forms of SRPS (summary by Elcioglu and Hall, 2002). - Genetic Heterogeneity of Short Rib-Polydactyly Syndrome Five types have been distinguished: SRPS I (Saldino-Noonan type); SRPS II (Majewski type; see 263520), SRPS III (Verma-Naumoff type; 263510),;

Inheritance : Autosomal recessive;

Prefixed ID : 263530;

Détails

Origin ID

263530;

UMLS CUI

C0036069;

Currated CISMeF NLP mapping
- Saldino-Noonan syndrome [PASCAL descriptor]
- Saldino-Noonan syndrome [DO Concept]
- Saldino-Noonan syndrome [MeSH concept]
- Short rib polydactyly syndrome type I (disorder) [SNOMED CT concept]
- Short rib-polydactyly syndrome, Saldino-Noonan type [ICD-11 More detail]
- Short rib-polydactyly syndrome, Saldino-Noonan type [ORDO Disease]
- Short rib-polydactyly syndrome, non-Majewski type (disorder) [Inactive SNOMED CT concept]
- asphyxiating thoracic dystrophy 3 [DO Concept]
- short rib-polydactyly syndrome, non-majewski type [SNOMED Notion]
HPO term(s)
- Genitourinary atresia [HPO term]
- Lethal dwarfism identifiable at birth [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Saldino-Noonan syndrome [MeSH concept]
- Saldino-Noonan syndrome [DO Concept]
- Saldino-Noonan syndrome [PASCAL descriptor]
- Short rib polydactyly syndrome type I (disorder) [SNOMED CT concept]
- Short rib-polydactyly syndrome, Saldino-Noonan type [ORDO Disease]
- Short rib-polydactyly syndrome, Saldino-Noonan type [ICD-11 More detail]
- Short rib-polydactyly syndrome, non-Majewski type (disorder) [Inactive SNOMED CT concept]
- Short-Rib Thoracic Dysplasia 3 with or without Polydactyly [NCIt concept]
- asphyxiating thoracic dystrophy 3 [DO Concept]
- short rib-polydactyly syndrome, non-majewski type [SNOMED Notion]
Validated automatic mappings to NTBT
- short rib-polydactyly syndrome [MeSH Descriptor]

Position du mot-clé dans l'(les) arborescence(s) :

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