Stickler Syndrome Type 1

Preferred Label : Stickler Syndrome Type 1;

NCIt synonyms : STL1;

NCIt definition : Stickler syndrome inherited in an autosomal dominant pattern, caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain.;

Details

Origin ID

C168733;

UMLS CUI

C2020284;

Currated CISMeF NLP mapping
- Stickler syndrome type 1 [ORDO Disease]
- Stickler syndrome type 1 [ICD-11 More detail]
- Stickler syndrome type 1 (disorder) [SNOMED CT concept]
- Stickler syndrome, type 1 [MeSH concept]
- Stickler syndrome, type I [OMIM Phenotype]
- stickler syndrome, type 1 [MeSH Supplementary Concept]
See also inter- (CISMeF)
- collagen type II alpha 1 chain [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Stickler syndrome type 1 [ORDO Disease]
- Stickler syndrome type 1 (disorder) [SNOMED CT concept]
- Stickler syndrome, type 1 [MeSH concept]
- Stickler syndrome, type I [OMIM Phenotype]
- stickler syndrome, type 1 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Stickler syndrome [OMIM phenotypic series]
- Stickler syndrome [ORDO Disease]
- Stickler syndrome (disorder) [SNOMED CT concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- COL2A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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