Cerebrooculofacioskeletal Syndrome 1

Preferred Label : Cerebrooculofacioskeletal Syndrome 1;

NCIt synonyms : COFS1;

NCIt definition : An autosomal recessive subtype of cerebrooculofacioskeletal syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.;

NCI Metathesaurus CUI : CL1406974;

Details

Origin ID

C173085;

UMLS CUI

C0220722;

Automatic exact mappings (from CISMeF team)
- cerebrooculofacioskeletal syndrome 1 [DO Concept]
Currated CISMeF NLP mapping
- Cerebrooculofacioskeletal syndrome 1 [OMIM Phenotype]
- cerebrooculofacioskeletal syndrome 1 [MeSH Supplementary Concept]
- cerebrooculofacioskeletal syndrome 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebrooculofacioskeletal syndrome 1 [OMIM Phenotype]
- cerebro-oculo-facio-skeletal syndrome [SNOMED Notion]
- cerebrooculofacioskeletal syndrome [Disease (Nov.)]
- cerebrooculofacioskeletal syndrome 1 [MeSH Supplementary Concept]
- cerebrooculofacioskeletal syndrome 1 [MeSH concept]
Validated automatic mappings to NTBT
- COFS syndrome [ORDO Disease]
- Cerebro-oculo-facio-skeletal syndrome (disorder) [SNOMED CT concept]
- Cerebrooculofacioskeletal syndrome [PASCAL descriptor]
- cerebro-oculo-facio-skeletal syndrome [SNOMED Notion]
- cerebrooculofacioskeletal syndrome [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ERCC1 Gene [NCIt concept]
- ERCC2 Gene [NCIt concept]
- ERCC5 Gene [NCIt concept]
- ERCC6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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