afwijkend weefsel van huid	autosomaal recessieve hereditaire aandoening	congenitale hypotrichose	hereditaire aandoening van integumentum	hereditaire ontwikkelingsstoornis
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hereditaire hypotrichose met recidiverende huidblaasjes (aandoening)
	hereditaire hypotrichose met recidiverende huidblaasjes
	erfelijke hypotrichie met terugkerende huidblaasjes
	Hereditary hypotrichosis with recurrent skin vesicles syndrome
	Hypotrichosis and recurrent skin vesicles
	A very rare inherited hair loss disorder with characteristics of sparse, fragile or absent hair on the scalp, eyebrows, eyelashes, axilla and rest of the body, associated with vesicle formation on various parts of the scalp and body which regularly burst and release watery fluid. Evidence suggests this syndrome is caused by homozygous mutation in the desmocollin-3 gene on chromosome 18q12.

Id	724350009
Status	Primitive

Associated morphology	afwijkend weefsel
Finding site	structuur van huid
Pathological process	proces van pathologische ontwikkeling

Associated morphology	hypoplasie
Finding site	structuur van pilus
Occurrence	congenitaal
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

SNOMED CT to Orphanet simple map

217407

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