Autosomal recessive hereditary disorder	Combined immunodeficiency disease	Congenital immunodeficiency disease	Developmental hereditary disorder	Multiple malformation syndrome with facial defects as major feature
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Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome (disorder)
	RIDDLE syndrome
	RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties) syndrome RNF168 (ring finger protein 168) deficiency Radiosensitivity, immunodeficiency, dysmorphic features, learning difficulties syndrome
	A rare genetic primary immunodeficiency disorder with characteristics of increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D) and learning difficulties (LE). There is evidence the disease is caused by homozygous or compound heterozygous mutation in the RNF168 gene on chromosome 3q29.
	syndroom van radiosensibiliteit, immunodeficiëntie, dysmorfe kenmerken en leerproblemen
	RNF168-deficiëntie RIDDLE-syndroom syndroom van radiosensitiviteit, immunodeficiëntie, dysmorfe kenmerken en leerproblemen

Id	783099001
Status	Primitive

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

Occurrence	Congenital
Pathological process	Abnormal immune process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	D82.8
Rule	TRUE
Advice	ALWAYS D82.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified