||||||||
syndroom van anhidrotische ectodermale dysplasie, immunodeficiƫntie, osteopetrose en lymfoedeem (aandoening)
syndroom van anhidrotische ectodermale dysplasie, immunodeficiƫntie, osteopetrose en lymfoedeem
anhidrotische ectodermale dysplasie-immuundeficiƫntie-osteopetrose-lymfoedeem-syndroom
OL-EDA-ID-syndroom
Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome
OL-EDA-ID (anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema) syndrome
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. It has been described in a few unrelated male patients born to mothers with mild incontinentia pigmenti. The first two reported children died before three years of age from multiple infections with Gram-positive cocci, Gram-negative bacilli, mycobacteria, and fungi. The syndrome is classified as a X-linked osteopetrosis and is caused by mutations in the IKBKG (NEMO) gene (Xq28).
Id720986005
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologymorfologische afwijking
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van ectoderm
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Pathological processafwijkend immuunproces
Clinical courseprogressief
Has interpretationafwijkend
Interpretszweten
Associated morphologylymfoedeem
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified