Autosomal recessive hereditary disorder	Developmental hereditary disorder	Ectodermal dysplasia with hair-tooth defects	Hereditary disorder of the integument	Hereditary disorder of tooth	Malformation of teeth	Multiple system malformation syndrome	Oral lesion	Skin lesion
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Conductive deafness, ptosis, skeletal anomalies syndrome (disorder)
	Conductive deafness, ptosis, skeletal anomalies syndrome
	Jackson Barr syndrome
	A rare genetic ectodermal dysplasia syndrome with characteristics of conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.
	syndroom van conductief gehoorverlies, ptosis en skeletale anomalieën
	syndroom van Jackson-Barr syndroom van geleidingsgehoorverlies, ptosis en skeletale anomalieën syndroom van conductieve doofheid, ptose en skeletafwijkingen

Id	763213001
Status	Primitive

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

Associated morphology	Dysplasia
Finding site	Skin 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	Dentition
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q87.8
Rule	TRUE
Advice	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified