Auditory system hereditary disorder	Decreased hearing	Developmental hereditary disorder	Ectodermal dysplasia with tooth-nail defects	Enamel hypoplasia	Genetic disorder of nail	Hearing loss associated with syndrome	Hereditary disorder of the integument	Hereditary disorder of tooth	Peroxisome biogenesis disorder	Sensorineural hearing loss
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Deafness, enamel hypoplasia, nail defect syndrome (disorder)
	Deafness, enamel hypoplasia, nail defect syndrome
	Heimler syndrome
	This syndrome is characterized by sensorineural hearing loss, generalized enamel hypoplasia of the permanent dentition with normal primary dentition and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.
	syndroom van doofheid, glazuurhypoplasie en nageldefect
	Heimler-syndroom doofheid-glazuurhypoplasie-nageldefect-syndroom syndroom van Heimler

Id	721085000
Status	Primitive

Has interpretation	Decreased
Interprets	Hearing

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

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

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

Finding site

Structure of auditory system

Associated morphology	Hypoplasia
Finding site	Enamel structure
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	H90.5
Rule	TRUE
Advice	ALWAYS H90.5 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified

Target	K00.4
Rule	TRUE
Advice	ALWAYS K00.4
Correlation	SNOMED CT source code to target map code correlation not specified

Target	Q84.6
Rule	TRUE
Advice	ALWAYS Q84.6
Correlation	SNOMED CT source code to target map code correlation not specified