Chronic disease of immune function
Chronic disease of skin
Ectodermal dysplasia with sweating defect
Hereditary disorder of the integument
Hereditary lymphedema
Osteopetrosis
Severe combined immunodeficiency disease
X-linked recessive hereditary disease
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Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder)
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).
syndroom van anhidrotische ectodermale dysplasie, immunodeficiëntie, osteopetrose en lymfoedeem
anhidrotische ectodermale dysplasie-immuundeficiëntie-osteopetrose-lymfoedeem-syndroom
OL-EDA-ID-syndroom
Id720986005
StatusPrimitive
Associated morphologyLymphatic edema
Finding siteLimb structure
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteEctoderm structure
OccurrenceCongenital
Pathological processPathological developmental process
Pathological processAbnormal immune process
Has interpretationBelow reference range
InterpretsOsteoclast turnover rate
Clinical courseProgressive
Has interpretationAbnormal
InterpretsSweating
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified