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hereditaire bulleuze dystrofie van maculatype (aandoening)
hereditaire bulleuze dystrofie van maculatype
erfelijke bulleuze dystrofie van maculatype
Bullous dystrophy macular type
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, microcephaly, short stature, and ectodermal anomalies (including alopecia, spontaneous formation of bullae without evident trauma, hyper- or hypopigmented maculae, acrocyanosis, and dystrophic nails) in male patients. Additional reported features are short, tapering fingers, ocular anomalies (such as corneal opacities and cataract), and hypogenitalism. There have been no further descriptions in the literature since 1995.
Id725589005
StatusPrimitive
Associated morphologybulla
Finding sitestructuur van huid
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map1867
SNOMED CT to ICD-10 extended map
TargetQ81.8
RuleTRUE
AdviceALWAYS Q81.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified