Connective tissue hereditary disorder	D-2(OH) glutaric aciduria	Developmental hereditary disorder	Enchondromatosis	Hereditary disorder of musculoskeletal system	Metabolic bone disease
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Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
	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.
	metafysaire chondromatose gelijktijdig met D-2-hydroxyglutaaracidurie

Id	724146008
Status	Primitive

Finding site	Structure of endocrine system
Occurrence	Congenital

Finding site	Structure of central nervous system
Occurrence	Congenital

Associated morphology	Dysplasia
Finding site	Bone structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Dysplasia
Finding site	Cartilage structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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