cerebrooculofacioskeletal syndrome 1

Preferred Label : cerebrooculofacioskeletal syndrome 1;

MeSH synonym : Pena-Shokeir syndrome, type II; cofs syndrome;

Is substance : O;

Origin ID

C562434;

UMLS CUI

C0220722;

Currated CISMeF NLP mapping
- Cerebro-oculo-facio-skeletal syndrome (disorder) [SNOMED CT concept]
- Cerebrooculofacioskeletal Syndrome [NCIt concept]
- Cerebrooculofacioskeletal Syndrome 1 [NCIt concept]
- Cerebrooculofacioskeletal syndrome [PASCAL descriptor]
- Cerebrooculofacioskeletal syndrome 1 [OMIM Phenotype]
- cerebro-oculo-facio-skeletal syndrome [SNOMED Notion]
- cerebrooculofacioskeletal syndrome [Disease (Nov.)]
MeSH term(s) associated for indexing
- cockayne syndrome [MeSH Descriptor]
Record concept(s)
- cerebrooculofacioskeletal syndrome 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cerebro-oculo-facio-skeletal syndrome (disorder) [SNOMED CT concept]
- Cerebrooculofacioskeletal Syndrome [NCIt concept]
- Cerebrooculofacioskeletal Syndrome 1 [NCIt concept]
- Cerebrooculofacioskeletal syndrome [PASCAL descriptor]
- Cerebrooculofacioskeletal syndrome 1 [OMIM Phenotype]
- cerebro-oculo-facio-skeletal syndrome [SNOMED Notion]
- cerebrooculofacioskeletal syndrome [Disease (Nov.)]
Validated automatic mappings to NTBT
- COFS syndrome [ORDO Disease]
- Cerebrooculofacioskeletal syndrome [OMIM phenotypic series]