autosomaal recessieve hereditaire aandoening	dysostose	Genetic intellectual disability	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	hypoplasie van ulna	mesomele dysplasie
\|	\|	\|	\|	\|	\|	\|

syndroom van hypoplasie van ulna en verstandelijke beperking (aandoening)
	syndroom van hypoplasie van ulna en verstandelijke beperking
	syndroom van hypoplasie van ulna en verstandelijke handicap syndroom van hypoplasie van ulna en mentale retardatie
	Congenital hypoplasia of ulna and intellectual disability syndrome
	Ulna hypoplasia with intellectual disability syndrome
	Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.

Id	719842006
Status	Primitive

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

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

Has interpretation	gestoord
Interprets	intellectueel vermogen

Has interpretation	gestoord
Interprets	Adaptation behavior

Has interpretation	onder referentiebereik
Interprets	Arm length

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

2249

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