Short-Rib Thoracic Dysplasia 6 with or without Polydactyly

Preferred Label : Short-Rib Thoracic Dysplasia 6 with or without Polydactyly;

NCIt synonyms : Polydactyly with Neonatal Chondrodystrophy Type II; Short Rib-Polydactyly Syndrome Type II; Majewski Syndrome;

NCIt definition : A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.;

Details

Origin ID

C122654;

UMLS CUI

C0024507;

Automatic exact mappings (from CISMeF team)
- short rib-polydactyly syndrome [MeSH Descriptor]
Currated CISMeF NLP mapping
- Majewski syndrome [PASCAL descriptor]
- Short rib-polydactyly syndrome, Majewski type [ORDO Disease]
- Short rib-polydactyly syndrome, Majewski type [ICD-11 More detail]
- Short rib-polydactyly syndrome, Majewski type (disorder) [SNOMED CT concept]
- Short rib-polydactyly syndrome, type iib [OMIM Phenotype]
- Short-rib thoracic dysplasia 6 with or without polydactyly [OMIM Phenotype]
- majewski syndrome [MeSH concept]
- short rib-polydactyly syndrome, majewski type [SNOMED Notion]
- short-rib thoracic dysplasia 6 with or without polydactyly [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Majewski syndrome [PASCAL descriptor]
- Short rib-polydactyly syndrome, Majewski type [ORDO Disease]
- Short rib-polydactyly syndrome, Majewski type [ICD-11 More detail]
- Short rib-polydactyly syndrome, Majewski type (disorder) [SNOMED CT concept]
- Short rib-polydactyly syndrome, type iib [OMIM Phenotype]
- Short-rib thoracic dysplasia 6 with or without polydactyly [OMIM Phenotype]
- majewski syndrome [MeSH concept]
- short rib-polydactyly syndrome, majewski type [SNOMED Notion]
- short-rib thoracic dysplasia 6 with or without polydactyly [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- NEK1 Gene [NCIt concept]
related_to_genetic_biomarker
- NEK1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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