craniofacial dyssynostosis

Preferred Label : craniofacial dyssynostosis;

CISMeF acronym : CFD;

MeSH synonym : craniosynostosis-craniofacial dysostosis syndrome; craniofacial dyssynostosis and short stature; craniofacial dyssynostosis with short stature;

Details

Origin ID

C536455;

UMLS CUI

C1857511;

Automatic exact mappings (from CISMeF team)
- CFD Gene [NCIt concept]
- Color Flow Doppler Ultrasound Imaging [NCIt concept]
- Complement Factor D [NCIt concept]
- Complement factor D [OMIM gene]
- Corneal dystrophy, fleck [OMIM Phenotype]
- PIKFYVE wt Allele [NCIt concept]
- complement factor D [ORDO Gene]
Currated CISMeF NLP mapping
- Craniofacial dyssynostosis syndrome (disorder) [SNOMED CT concept]
- Craniofacial dyssynostosis with short stature [OMIM Phenotype]
- Non-syndromic bilambdoid and sagittal craniosynostosis [ORDO Disease]
MeSH term(s) associated for indexing
- craniofacial abnormalities [MeSH Descriptor]
ORDO relation(s)
- Non-syndromic bilambdoid and sagittal craniosynostosis [ORDO Disease]
Record concept(s)
- Craniofacial dyssynostosis [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniofacial dyssynostosis with short stature [OMIM Phenotype]
- Non-syndromic bilambdoid and sagittal craniosynostosis [ORDO Disease]

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