autosomaal dominante hereditaire aandoening	brachydactylie van vinger	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	trifalangeale digitus I
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syndroom van trifalangeale digitus I en brachyectrodactylie (aandoening)
	syndroom van trifalangeale digitus I en brachyectrodactylie
	syndroom van Carnevale Hernandez del Castillo Carnevale Hernandez del Castillo-syndroom syndroom van trifalangeale duim en brachyectrodactylie
	Triphalangeal thumb with brachyectrodactyly syndrome
	Carnevale Hernandez del Castillo syndrome
	A rare genetic syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy characterized by duplication anomalies such as triphalangeal thumbs, phalangeal duplication of other digits, and polydactyly, associated with highly variable combinations of ectrodactyly, brachydactyly, and syndactyly of hands and/or feet. Severe nail dysplasia or absence of nails is also observed.

Id	719951002
Status	Primitive

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

Associated morphology	abnormaal korte groei
Finding site	gehele digitus van hand
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	Q74.8
Term	Overige gespecificeerde congenitale misvormingen van extremiteit(en)

SNOMED CT to Orphanet simple map

2947

SNOMED CT to ICD-10 extended map

Target	Q74.8
Rule	TRUE
Advice	ALWAYS Q74.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified