Autosomal recessive retinitis pigmentosa	Congenital anomaly of retina	Developmental hereditary disorder	Ectodermal dysplasia with hair-tooth-nail defects	Genetic disorder of nail	Hereditary disorder of the integument	Hereditary disorder of tooth
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Oculotrichodysplasia (disorder)
	Oculotrichodysplasia
	Cecatto de Lima Pinheiro syndrome
	This disease has characteristics of retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.
	oculotrichodysplasie

Id	722062004
Status	Primitive

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

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

Associated morphology	Dystrophy
Finding site	Retinal 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	H35.5
Rule	TRUE
Advice	ALWAYS H35.5
Correlation	SNOMED CT source code to target map code correlation not specified