Autosomal recessive hereditary disorder	Cardiovascular system hereditary disorder	Combined immunodeficiency disease	Congenital immunodeficiency disease	Congenital livedo reticularis	Developmental hereditary disorder	Hereditary disorder of immune system	Hereditary disorder of the integument	Multiple malformation syndrome with facial defects as major feature	Short stature disorder
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Facial dysmorphism, immunodeficiency, livedo, short stature syndrome (disorder)
	Facial dysmorphism, immunodeficiency, livedo, short stature syndrome
	FILS syndrome FILS (facial dysmorphism, immunodeficiency, livedo, short stature) syndrome
	A rare genetic disease with characteristics of 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 naive T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4. Patients do not exhibit increased susceptibility to cancer. There is evidence the disease is caused by homozygous mutation in the POLE gene on chromosome 12q24.
	syndroom van faciale dysmorfie, immunodeficiëntie, livedo en kleine gestalte
	FILS-syndroom

Id	771515001
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Face structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Finding site	Blood vessel structure of skin
Occurrence	Congenital

Pathological process

Abnormal immune process

Interprets

Height / growth measure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.1
Rule	TRUE
Advice	ALWAYS Q87.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified