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syndroom van faciale dysmorfie, immunodeficiëntie, livedo en kleine gestalte (aandoening)
syndroom van faciale dysmorfie, immunodeficiëntie, livedo en kleine gestalte
FILS-syndroom
Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
FILS syndrome
FILS (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.
Id771515001
StatusPrimitive
Pathological processafwijkend immuunproces
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.1
TermCongenitale gestoorde-ontwikkelingssyndromen voornamelijk gepaard gaande met kleine gestalte
SNOMED CT to Orphanet simple map352712
SNOMED CT to ICD-10 extended map
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified