Senior-Loken Syndrome

Preferred Label : Senior-Loken Syndrome;

NCIt synonyms : SLSN;

NCIt definition : A genetically heterogenous condition usually inherited in an autosomal recessive pattern. It is characterized by nephronophthisis and retinitis pigmentosa.;

Détails

Origin ID

C168588;

UMLS CUI

C0403553;

Currated CISMeF NLP mapping
- Renal dysplasia and retinal aplasia (disorder) [SNOMED CT concept]
- Senior Loken Syndrome [MeSH concept]
- Senior Loken syndrome [Disease (Nov.)]
- Senior-Loken syndrome [ORDO Disease]
- Senior-Loken syndrome [MedDRA Preferred Term]
- Senior-Loken syndrome [DO Concept]
- Senior-Loken syndrome [ICD-11 More detail]
- Senior-Loken syndrome [PASCAL descriptor]
- Senior-loken syndrome [OMIM phenotypic series]
- senior loken syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Renal dysplasia and retinal aplasia (disorder) [SNOMED CT concept]
- Senior Loken Syndrome [MeSH concept]
- Senior Loken syndrome [Disease (Nov.)]
- Senior-Loken syndrome [ORDO Disease]
- Senior-Loken syndrome [PASCAL descriptor]
- Senior-Loken syndrome [DO Concept]
- Senior-Loken syndrome [MedDRA Preferred Term]
- senior loken syndrome [MeSH Supplementary Concept]
Validated automatic mappings to BTNT
- Senior-loken syndrome 1 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
related_to_genetic_biomarker
- NPHP1 Gene [NCIt concept]
- WDR19 Gene [NCIt concept]

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

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