autosomaal recessieve ernstige gecombineerde immunodeficiëntie	hereditair tumorpredispositiesyndroom	hereditaire ontwikkelingsstoornis	malformatiesyndroom met betrokkenheid van meerdere systemen
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ligase-4-syndroom (aandoening)
	ligase-4-syndroom
	LIG4-syndroom DNA-ligase-IV-deficiëntie
	LIG4 syndrome
	Ligase 4 syndrome Deoxyribonucleic acid ligase IV deficiency DNA (deoxyribonucleic acid) ligase IV deficiency LIG4 (ligase 4) syndrome
	LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

Id	724177005
Status	Primitive

Finding site

structuur van lichaamssysteem

Associated morphology	morfologische afwijking
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Pathological process

afwijkend immuunproces

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	D81.1
Term	'Severe combined immunodeficiency' [SCID] met lage aantallen T- en B-cellen

SNOMED CT to Orphanet simple map

99812

SNOMED CT to ICD-10 extended map

Target	D81.1
Rule	TRUE
Advice	ALWAYS D81.1 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified