Amelogenesis imperfecta	Intellectual disability	Localized junctional epidermolysis bullosa
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Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
	Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome
	A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.
	syndroom van laat optredende gelokaliseerde junctionele epidermolysis bullosa en verstandelijke beperking
	syndroom van laat optredende gelokaliseerde junctionele epidermolysis bullosa en verstandelijke handicap syndroom van laat optredende gelokaliseerde junctionele epidermolysis bullosa en mentale retardatie

Id	773692000
Status	Primitive

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

Associated morphology	Epidermolysis
Finding site	Skin structure
Occurrence	Congenital
Pathological process	Pathological developmental process

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	Q81.8
Rule	TRUE
Advice	ALWAYS Q81.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified