Pfeiffer syndrome

ICD-11 code : LD24.G0;

Preferred Label : Pfeiffer syndrome;

ICD-11 definition : Pfeiffer syndrome (associated with mutations in the FGFR1 and 2 gene) is a syndromic form of craniosynostosis characterised by the association of craniosynostosis. Often pansynostosis. Severe midface hypoplasia. Broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows.;

Details

Origin ID

1075159878;

Automatic exact mappings (from CISMeF team)
- acrocephalosyndactylia [MeSH Descriptor]
- fibroblast growth factor receptor 1 [ORDO Gene]
- fibroblast growth factor receptor 1 [HGNC gene]
- fibroblast growth factor receptor 2 [ORDO Gene]
- fibroblast growth factor receptor 2 [HGNC gene]
Currated CISMeF NLP mapping
- Acrocephalosyndactyly type V (disorder) [SNOMED CT concept]
- Pfeiffer syndrome [OMIM Phenotype]
- Pfeiffer syndrome [ORDO Disease]
- Pfeiffer syndrome [PASCAL descriptor]
- Pfeiffer syndrome [DO Concept]
- Pfeiffer syndrome [MedDRA Preferred Term]
- Type V Acrocephalosyndactyly [NCIt concept]
- pfeiffer syndrome [SNOMED Notion]
- pfeiffer syndrome [MeSH concept]
- pfeiffer type acrocephalosyndactyly [MeSH Supplementary Concept]
ICD-10 Mapping
- Other specified congenital malformations of skull and face bones [ICD-10 Sub-category]

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