autosomaal dominante hereditaire aandoening	brachymesofalangie	congenitale afwijking van uitwendig oor	hereditaire aandoening van auditief systeem	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van extremiteit als voornaamst kenmerk
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syndroom van cryptomicrotie en brachydactylie (aandoening)
	syndroom van cryptomicrotie en brachydactylie
	Cryptomicrotia brachydactyly syndrome
	Cryptomicrotia, brachydactyly, excess fingertip arch syndrome Tonoki Ohura Niikawa syndrome
	This syndrome describes a combination of malformations that include bilateral cryptomicrotia (recessed, hidden and small or absent ears), brachytelomesophalangy with short middle and distal phalanges of digits two through five, hypoplastic toenails and excess fingertip arch patterns. The syndrome has been reported in one family (mother and son). There have been no further descriptions in the literature since 1988.

Id	725096002
Status	Primitive

Associated morphology	abnormaal korte groei
Finding site	gehele middenfalanx
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Associated morphology	morfologische afwijking
Finding site	structuur van auris externa
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

DHD Diagnosethesaurus-referentieset

referentieset met complexe 'mapping' naar ICD-10

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified