stickler syndrome

Preferred Label : stickler syndrome;

CISMeF synonym : Stickler;

Details

Origin ID

D4-00812;

UMLS CUI

C0265253;

Currated CISMeF NLP mapping
- Stickler Syndrome [NCIt concept]
- 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's syndrome [MedDRA Preferred Term]
ICD-10 exact mapping(s)
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category (who)]
Manual BTNT mappings - CISMeF
- Autosomal dominant otospondylomegaepiphyseal dysplasia [ORDO Disease]
- Stickler syndrome type 1 [ORDO Disease]
- Stickler syndrome type 2 [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Chondrodysplastic malformation syndrome [ORDO Disease]
- Musculoskeletal disease with cataract [ORDO Disease]
- Pierre Robin syndrome associated with collagen disease [ORDO Disease]
- Rare disease with glaucoma as a major feature [ORDO Disease]
- Syndrome or malformation associated with head and neck malformations [ORDO Disease]
- Syndromic developmental defect of the eye [ORDO Disease]
- Syndromic genetic deafness [ORDO Disease]
- Syndromic myopia [ORDO Disease]
- Vitreoretinal degeneration [ORDO Disease]
Metaterm(s)
- pediatrics [CISMeF Metaterm]
SNOMED CT concept
- Stickler syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Stickler Syndrome [NCIt concept]
- Stickler syndrome [ORDO Disease]
- Stickler syndrome [Disease (Nov.)]
- Stickler syndrome [DO Concept]
- Stickler syndrome [PASCAL descriptor]
- Stickler syndrome (disorder) [SNOMED CT concept]
- Stickler's syndrome [MedDRA Preferred Term]
Validated automatic mappings to BTNT
- stickler syndrome, type 1 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients