Primary Ciliary Dyskinesia 1

Preferred Label : Primary Ciliary Dyskinesia 1;

NCIt synonyms : CILD1;

NCIt definition : An autosomal recessive primary ciliary motility defect caused by mutation(s) in the DNAI1 gene, encoding dynein intermediate chain 1, axonemal.;

NCI Metathesaurus CUI : CL509769;

Détails

Origin ID

C128117;

UMLS CUI

C4551906;

Automatic exact mappings (from CISMeF team)
- dynein axonemal intermediate chain 1 [ORDO Gene]
Currated CISMeF NLP mapping
- Ciliary Dyskinesia, Primary, 1 [MeSH concept]
- Ciliary dyskinesia, primary, 1 [OMIM Phenotype]
- Primary ciliary dyskinesia [ORDO Disease]
- Primary ciliary dyskinesia [MedDRA Preferred Term]
- Primary ciliary dyskinesia (disorder) [Inactive SNOMED CT concept]
- primary ciliary dyskinesia [DO Concept]
- primary ciliary dyskinesia 1 [DO Concept]
See also inter- (CISMeF)
- Immotile cilia syndrome [MedDRA LLT]
- Immotile cilia syndrome (disorder) [SNOMED CT concept]
- Kartagener syndrome [MeSH Descriptor]
- immotile cilia syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ciliary dyskinesia, primary, 1 [OMIM Phenotype]
Validated automatic mappings to NTBT
- ciliary motility disorders [MeSH Descriptor]
- ciliary motility disorders [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- DNAI1 Gene [NCIt concept]

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

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