algehele ontwikkelingsachterstand	auto-immuunziekte	autosomaal recessieve hereditaire aandoening	congenitale immunodeficiëntie	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk	primaire immunodeficiëntie
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syndromale multisystemische auto-immuunziekte door deficiëntie van 'E3 ubiquitin-protein ligase Itchy homolog' (aandoening)
	syndromale multisystemische auto-immuunziekte door ITCH-deficiëntie
	syndromale multisystemische auto-immuunziekte door deficiëntie van 'E3 ubiquitin-protein ligase Itchy homolog'
	Syndromic multisystem autoimmune disease due to ITCH deficiency
	Syndromic multisystem autoimmune disease due to itchy E3 ubiquitin protein ligase deficiency
	A rare genetic systemic autoimmune disease with characteristics of failure to thrive, global developmental delay, distinctive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognathia), hepato and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland. Caused by homozygous mutation in the ITCH gene on chromosome 20q11.

Id	778023004
Status	Primitive

Associated morphology	morfologische afwijking
Finding site	structuur van aangezicht
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Pathological process

auto-immuunproces

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.0
Term	Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan

SNOMED CT to Orphanet simple map

228426

SNOMED CT to ICD-10 extended map

Target	Q87.0
Rule	TRUE
Advice	ALWAYS Q87.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified