Congenital Contractural Arachnodactyly

Preferred Label : Congenital Contractural Arachnodactyly;

NCIt synonyms : Beals Syndrome; Arthrogryposis, Distal, Type 9; CCA;

NCIt definition : An autosomal dominant connective tissue disorder caused by mutation(s) in the FBN2 gene, encoding fibrillin-2. It is characterized by contractures, arachnodactyly, scoliosis, micrognathia, and crumpled ears.;

Details

Origin ID

C129865;

UMLS CUI

C0220668;

Automatic exact mappings (from CISMeF team)
- Canonical Correlation Analysis [MeSH Descriptor]
- Cholangiocarcinoma [ORDO Disease]
- fibrillin 2 [ORDO Gene]
Currated CISMeF NLP mapping
- Congenital contractural arachnodactyly [ORDO Disease]
- Congenital contractural arachnodactyly [MeSH concept]
- Congenital contractural arachnodactyly [ICD-11 Sub-sub category]
- Congenital contractural arachnodactyly (disorder) [SNOMED CT concept]
- Contractural arachnodactyly, congenital [OMIM Phenotype]
- Marfan's syndrome (disorder) [SNOMED CT concept]
- arthrogryposis distal type 9 [Disease (Nov.)]
- congenital contractural arachnodactyly [MeSH Supplementary Concept]
- congenital contractural arachnodactyly [DO Concept]
DO Cross reference
- congenital contractural arachnodactyly [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital contractural arachnodactyly [ORDO Disease]
- Congenital contractural arachnodactyly [MeSH concept]
- Congenital contractural arachnodactyly (disorder) [SNOMED CT concept]
- Contractural arachnodactyly, congenital [OMIM Phenotype]
- arthrogryposis distal type 9 [Disease (Nov.)]
- congenital contractural arachnodactyly [MeSH Supplementary Concept]
- congenital contractural arachnodactyly [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
- FBN2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients