pena shokeir syndrome type 2

Preferred Label : pena shokeir syndrome type 2;

MeSH synonym : Pena-Shokeir syndrome type 2;

Origin ID

C536646;

UMLS CUI

C2931277;

Automatic exact mappings (from CISMeF team)
- CAMFAK syndrome [ICD-11 More detail]
- CAMFAK syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- COFS syndrome [ORDO Disease]
- Cerebro-oculo-facio-skeletal syndrome [ICD-11 More detail]
- Cerebro-oculo-facio-skeletal syndrome (disorder) [SNOMED CT concept]
- cerebro-oculo-facio-skeletal syndrome [SNOMED Notion]
MeSH term(s) associated for indexing
- bone and bones [MeSH Descriptor]
- eye abnormalities [MeSH Descriptor]
- face [MeSH Descriptor]
Record concept(s)
- Pena Shokeir syndrome Type 2 [MeSH concept]
See also inter- (CISMeF)
- Cerebrooculofacioskeletal Syndrome [NCIt concept]
- cerebrooculofacioskeletal syndrome [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]