Apert syndrome

ICD-11 code : LD24.G2;

Preferred Label : Apert syndrome;

ICD-11 definition : Apert syndrome is a syndromic craniosynostosis associated with mutations in the FGFR2 gene and characterized by premature closure of coronal suture and a later onset of pansysostosis. Pathognomonic is an osseous and membranous syndactyly of at least Digitus II-IV (fingers and toes). High incidence of midface hypoplasia with orbital- and facial stenosis, cleft palate, verterbral fusion. Mental deficits in 30%.;

Details

Origin ID

1962779847;

Currated CISMeF NLP mapping
- Acrocephalosyndactyly type I (disorder) [SNOMED CT concept]
- Apert syndrome [PASCAL descriptor]
- Apert syndrome [OMIM Phenotype]
- Apert syndrome [ORDO Disease]
- Apert syndrome [Radlex concept]
- Apert's syndrome [MedDRA Preferred Term]
- Apert's syndrome [MedDRA LLT]
- Type I Acrocephalosyndactyly [NCIt concept]
- acrocephalosyndactylia [DO Concept]
- acrocephalosyndactylia [MeSH Descriptor]
- apert syndrome [MeSH concept]
- apert's syndrome [SNOMED Notion]
ICD-10 Mapping
- Other congenital malformations of musculoskeletal system [ICD-10 Sub-category]
Validated automatic mappings to NTBT
- Acrocephalosyndactyly (disorder) [SNOMED CT concept]

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