autosomaal dominante hereditaire aandoening	congenitale alopecia	congenitale hypoplasie van digitus I van hand	dwerggroei	hereditaire cutane hyperpigmentatie	polymalformatief syndroom met defect van extremiteit als voornaamst kenmerk
\|	\|	\|	\|	\|	\|

syndroom van deformiteit van digitus I, alopecia en pigmentatie-anomalie (aandoening)
	syndroom van deformiteit van digitus I, alopecia en pigmentatie-anomalie
	syndroom van deformiteit van duim, alopecia en pigmentatie-anomalie
	Thumb deformity, alopecia, pigmentation anomaly syndrome
	Sparse hair, short stature, skin anomalies syndrome
	A rare genetic congenital limb malformation syndrome with characteristics of short stature, sparse scalp hair, hypoplastic, proximally placed thumbs and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.

Id	771182002
Status	Primitive

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

Associated morphology	hypoplasie
Finding site	structuur van digitus I van hand
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	hyperpigmentatie
Finding site	structuur van huid
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Interprets

meetbare observatie betreffende lengte en/of groei

DHD Diagnosis thesaurus reference set

RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set

Target	Q87.2
Term	Congenitale gestoorde-ontwikkelingssyndromen van hoofdzakelijk extremiteiten

SNOMED CT to Orphanet simple map

2251

SNOMED CT to ICD-10 extended map

Target	Q87.2
Rule	TRUE
Advice	ALWAYS Q87.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified