stickler syndrome, type 1

Preferred Label : stickler syndrome, type 1;

MeSH synonym : stickler syndrome, vitreous type 1; arthroophthalmopathy, hereditary progressive; stickler syndrome, membranous vitreous type; stickler syndrome, type I; Stickler Dysplasia; Stickler Syndrome; Hereditary Arthro-Ophthalmo-Dystrophy; Hereditary Arthro-Ophthalmopathy;

Is substance : O;

Details

Origin ID

C537492;

UMLS CUI

C2020284;

Currated CISMeF NLP mapping
- Stickler Syndrome Type 1 [NCIt concept]
- Stickler syndrome [ORDO Disease]
- Stickler syndrome [OMIM phenotypic series]
- Stickler syndrome type 1 [ICD-11 More detail]
- Stickler syndrome type 1 [ORDO Disease]
- Stickler syndrome type 1 (disorder) [SNOMED CT concept]
- Stickler syndrome, type I [OMIM Phenotype]
MeSH term(s) associated for indexing
- arthritis [MeSH Descriptor]
- connective tissue diseases [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- retinal detachment [MeSH Descriptor]
ORDO relation(s)
- Stickler syndrome [ORDO Disease]
- Stickler syndrome type 1 [ORDO Disease]
Record concept(s)
- Stickler syndrome, type 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Stickler Syndrome Type 1 [NCIt concept]
- Stickler syndrome type 1 [ORDO Disease]
- Stickler syndrome type 1 (disorder) [SNOMED CT concept]
- Stickler syndrome, type I [OMIM Phenotype]
Validated automatic mappings to NTBT
- Stickler Syndrome [NCIt concept]
- Stickler syndrome [DO Concept]
- Stickler syndrome [Disease (Nov.)]
- Stickler syndrome [PASCAL descriptor]
- Stickler syndrome [ICD-11 More detail]
- Stickler syndrome (disorder) [SNOMED CT concept]
- Stickler's syndrome [MedDRA Preferred Term]
- stickler syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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