acidurie met D-2-hydroxyglutaraat	enchondromatose	hereditaire aandoening van bewegingsapparaat	hereditaire aandoening van bindweefsel	hereditaire ontwikkelingsstoornis	metabole botziekte
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metafysaire chondromatose gelijktijdig met D-2-hydroxyglutaaracidurie (aandoening)
	metafysaire chondromatose gelijktijdig met D-2-hydroxyglutaaracidurie
	Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria
	An extremely rare genetic disorder with characteristics of the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria. Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.

Id	724146008
Status	Primitive

Finding site	structuur van endocrien systeem
Occurrence	congenitaal

Finding site	structuur van centraal zenuwstelsel
Occurrence	congenitaal

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

Associated morphology	dysplasie
Finding site	structuur van cartilago
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	Q78.4
Term	Enchondromatose

Target	E72.3
Term	Stoornissen van lysine- en hydroxylysinemetabolisme

SNOMED CT to Orphanet simple map

99646

SNOMED CT to ICD-10 extended map

Target	Q78.4
Rule	TRUE
Advice	ALWAYS Q78.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	E72.3
Rule	TRUE
Advice	ALWAYS E72.3
Correlation	SNOMED CT source code to target map code correlation not specified