Stiff Skin Syndrome

Preferred Label : Stiff Skin Syndrome;

NCIt definition : A rare, autosomal dominant inherited syndrome caused by mutations in the FBN1 gene. It is characterized by hard and thickened skin, usually over the entire body, and limited joint motility.;

Details

Origin ID

C118636;

UMLS CUI

C1861456;

Currated CISMeF NLP mapping
- Stiff skin syndrome [ORDO Disease]
- Stiff skin syndrome [OMIM Phenotype]
- Stiff skin syndrome [PASCAL descriptor]
- Stiff skin syndrome [ICD-11 More detail]
- Stiff skin syndrome [MedDRA Preferred Term]
- Stiff skin syndrome (disorder) [SNOMED CT concept]
- stiff skin syndrome [MeSH concept]
- stiff skin syndrome [MeSH Supplementary Concept]
- stiff skin syndrome [Disease (Nov.)]
- stiff skin syndrome [DO Concept]
DO Cross reference
- stiff skin syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Stiff skin syndrome [ORDO Disease]
- Stiff skin syndrome [PASCAL descriptor]
- Stiff skin syndrome [OMIM Phenotype]
- Stiff skin syndrome [ICD-11 More detail]
- Stiff skin syndrome [MedDRA Preferred Term]
- Stiff skin syndrome (disorder) [SNOMED CT concept]
- stiff skin syndrome [MeSH Supplementary Concept]
- stiff skin syndrome [MeSH concept]
- stiff skin syndrome [Disease (Nov.)]
- stiff skin syndrome [DO 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
- FBN1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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