Short-Rib Thoracic Dysplasia 3 with or without Polydactyly

Preferred Label : Short-Rib Thoracic Dysplasia 3 with or without Polydactyly;

NCIt synonyms : SRTD3;

NCIt definition : An autosomal recessive type of short rib-polydactyly syndrome caused by mutation(s) in the DYNC2H1 gene, encoding cytoplasmic dynein 2 heavy chain 1. Additionally, there is evidence that it may be caused by digenic biallelic mutation in DYNC2H1 and in NEK1 (the latter encoding serine/threonine-protein kinase Nek1). It is characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present.;

Details

Origin ID

C163755;

UMLS CUI

C0036069;

Currated CISMeF NLP mapping
- Short-rib thoracic dysplasia 3 with or without polydactyly [OMIM Phenotype]
- asphyxiating thoracic dystrophy 3 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 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 [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-polydactyly syndrome, type i [OMIM Phenotype]
- Short-rib thoracic dysplasia 3 with or without polydactyly [OMIM Phenotype]
- asphyxiating thoracic dystrophy 3 [DO Concept]
- short rib-polydactyly syndrome, non-majewski type [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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