aandoening van haargroei	afwijkend weefsel van huid	autosomaal recessieve hereditaire aandoening	congenitale dysplasie van extremiteit	ectodermale dysplasie met afwijkingen van haar en nagels	genetische nagelaandoening	hereditaire aandoening van integumentum	hereditaire ontwikkelingsstoornis
\|	\|	\|	\|	\|	\|	\|	\|

pili torti-onychodysplasie (aandoening)
	pili torti-onychodysplasie
	Pili torti onychodysplasia syndrome
	A form of ectodermal dysplasia with characteristics of dystrophy of the distal part of the nails and trichodysplasia. It has been described in only one family. Transmission is autosomal recessive.

Id	723451000
Status	Primitive

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

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

Associated morphology	dysplasie
Finding site	structuur van ectoderm
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	Q84.1
Term	Congenitale morfologische stoornissen van haar, niet elders geclassificeerd

Target	Q82.4
Term	Ectodermale dysplasie (anhidrotisch)

SNOMED CT to Orphanet simple map

2890

SNOMED CT to ICD-10 extended map

Target	Q84.1
Rule	TRUE
Advice	ALWAYS Q84.1
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q82.4
Rule	TRUE
Advice	ALWAYS Q82.4
Correlation	SNOMED CT source code to target map code correlation not specified