Autosomal dominant hereditary disorder	Congenital anomaly of eye	Developmental hereditary disorder	Hereditary disorder of the visual system
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Microphthalmia with brain and digit anomaly (disorder)
	Microphthalmia with brain and digit anomaly
	Bakrania Ragge syndrome Syndromic microphthalmia type 6
	This syndrome has characteristics of anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.
	syndroom van microftalmie met afwijking van hersenen en digitus
	microftalmie met afwijking van hersenen en afwijking van vinger of teen Bakrania-Ragge-syndroom syndroom van Bakrania-Ragge

Id	721878003
Status	Primitive

Associated morphology	Morphologically abnormal structure
Finding site	Eye structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q11.2
Rule	TRUE
Advice	ALWAYS Q11.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified