autosomaal recessieve hereditaire aandoening	congenitale hypotrichose	degeneratieve aandoening van macula	ectodermale dysplasie	hereditaire aandoening van integumentum	hereditaire aandoening van visueel systeem	hereditaire ontwikkelingsstoornis
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syndroom van hypotrichose en juveniele maculadegeneratie (aandoening)
	syndroom van hypotrichose en juveniele maculadegeneratie
	Hypotrichosis with juvenile macular degeneration syndrome
	HJMD (hypotrichosis, juvenile macular degeneration) syndrome
	Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.

Id	723364003
Status	Primitive

Associated morphology	dysplasie
Finding site	structuur van ectoderm
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	hypoplasie
Finding site	structuur van pilus
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	degeneratieve afwijking
Finding site	structuur van macula lutea
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q84.0
Term	Congenitale alopecia

Target	H35.5
Term	Hereditaire retinadystrofie

SNOMED CT to Orphanet simple map

1573

SNOMED CT to ICD-10 extended map

Target	Q84.0
Rule	TRUE
Advice	ALWAYS Q84.0 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified