hereditaire cutane hyperpigmentatie	otopalatodigitaal syndroom-spectrumstoornis
\|	\|

syndroom van terminale botdysplasie en pigmentdefect (aandoening)
	syndroom van terminale botdysplasie en pigmentdefect
	terminale botdysplasie-pigmentatiedefect-syndroom
	Terminal osseous dysplasia and pigmentary defect syndrome
	Terminal osseous dysplasia-pigmentary defects syndrome is characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.

Id	723578001
Status	Primitive

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

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

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

88630

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