Stickler Syndrome

Preferred Label : Stickler Syndrome;

NCIt definition : A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.;

Details

Origin ID

C74984;

UMLS CUI

C0265253;

Currated CISMeF NLP mapping
- Stickler syndrome [PASCAL descriptor]
- Stickler syndrome [DO Concept]
- Stickler syndrome [Disease (Nov.)]
- Stickler syndrome [ICD-11 More detail]
- Stickler syndrome [OMIM phenotypic series]
- Stickler syndrome [ORDO Disease]
- Stickler syndrome (disorder) [SNOMED CT concept]
- Stickler syndrome, type 1 [MeSH concept]
- Stickler syndrome, type I [OMIM Phenotype]
- Stickler's syndrome [MedDRA Preferred Term]
- stickler syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Stickler syndrome [ORDO Disease]
- Stickler syndrome [PASCAL descriptor]
- Stickler syndrome [DO Concept]
- Stickler syndrome [Disease (Nov.)]
- Stickler syndrome (disorder) [SNOMED CT concept]
- Stickler's syndrome [MedDRA Preferred Term]
- stickler syndrome [SNOMED Notion]
Validated automatic mappings to BTNT
- Stickler syndrome type 1 [ICD-11 More detail]
- Stickler syndrome type 1 (disorder) [SNOMED CT concept]
- stickler syndrome, type 1 [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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