Autosomal recessive hereditary disorder	Congenital anomaly of eye	Developmental hereditary disorder	Ectodermal dysplasia with hair-tooth defects	Hereditary disorder of the integument	Hereditary disorder of the visual system	Hereditary disorder of tooth	Intellectual disability	Multiple malformation syndrome with facial defects as major feature
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Ectodermal dysplasia with blindness syndrome (disorder)
	Ectodermal dysplasia with blindness syndrome
	Syndrome with characteristics of intellectual deficit, blindness caused by ocular malformations (microphthalmia, microcornea and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge and prominent ears), hypotrichosis, and malaligned teeth. It has been described in two siblings (brother and sister) and is likely to be transmitted as an autosomal recessive trait.
	syndroom van ectodermale dysplasie en blindheid

Id	721208007
Status	Primitive

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

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

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

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

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

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q82.4
Rule	TRUE
Advice	ALWAYS Q82.4 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	H54.0
Rule	TRUE
Advice	ALWAYS H54.0
Correlation	SNOMED CT source code to target map code correlation not specified