adactylie van hand en/of voet	autosomaal recessieve hereditaire aandoening	congenitale hemivertebra	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	polymalformatief syndroom met defect van extremiteit als voornaamst kenmerk	structurele afwijking van bot van extremiteit	structurele afwijking van pijpbeen
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syndroom van afalangie, hemivertebra en urogenitale en/of intestinale dysgenesie (aandoening)
	syndroom van afalangie, hemivertebra en urogenitale en/of intestinale dysgenesie
	syndroom van Johnson-Munson
	Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome
	Johnson Munson syndrome
	An extremely rare congenital limb malformation syndrome, described in only 3 patients to date, characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.

Id	733118006
Status	Primitive

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

Associated morphology	afwezigheid
Finding site	structuur van falanx
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	Q87.8
Term	Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd

SNOMED CT to Orphanet simple map

1112

SNOMED CT to ICD-10 extended map

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