Lymphedema-Distichiasis Syndrome

Preferred Label : Lymphedema-Distichiasis Syndrome;

NCIt definition : An autosomal dominant genetic disorder caused by mutation(s) in the FOXC2 gene, encoding forkhead box protein C2. The condition is characterized by lymphedema and distichiasis.;

Details

Origin ID

C128191;

UMLS CUI

C0265345;

Currated CISMeF NLP mapping
- Distichiasis-lymphedema syndrome (disorder) [SNOMED CT concept]
- Lymphedema distichiasis syndrome [MeSH concept]
- Lymphedema-distichiasis syndrome [OMIM Phenotype]
- Lymphedema-distichiasis syndrome [ORDO Disease]
- distichiasis-lymphedema syndrome [SNOMED Notion]
- lymphedema distichiasis syndrome [MeSH Supplementary Concept]
- lymphedema distichiasis syndrome [Disease (Nov.)]
- lymphedema-distichiasis syndrome [DO Concept]
DO Cross reference
- lymphedema-distichiasis syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distichiasis-lymphedema syndrome (disorder) [SNOMED CT concept]
- Lymphedema distichiasis syndrome [MeSH concept]
- Lymphedema-distichiasis syndrome [ORDO Disease]
- Lymphedema-distichiasis syndrome [OMIM Phenotype]
- distichiasis-lymphedema syndrome [SNOMED Notion]
- lymphedema distichiasis syndrome [MeSH Supplementary Concept]
- lymphedema distichiasis syndrome [Disease (Nov.)]
- lymphedema-distichiasis syndrome [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- FOXC2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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