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histiocytose-lymfadenopathie plus-syndroom (aandoening)
histiocytose-lymfadenopathie plus-syndroom
SLC29A3-spectrumstoornis
Histiocytosis-lymphadenopathy plus syndrome
H syndrome
SLC29A3 spectrum disorder
A rare cutaneous disease and a systemic inherited histiocytosis with main characteristics of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. The syndrome becomes clinically apparent mostly during childhood, but cases during infancy and late-onset cases have been reported too. Caused by mutations in SLC29A3 (10q22.2) (encoding a nucleoside transporter, hENT3), which result in defective nucleoside transport functions of hENT3. This leads to histiocytic infiltration of numerous organs. Transmission is autosomal recessive.
Id711159002
StatusPrimitive
Finding sitestructuur van huid
Associated morphologyhistiocytose - categorie
referentieset met complexe 'mapping' naar ICD-10
TargetD76.3
RuleTRUE
AdviceALWAYS D76.3
CorrelationSNOMED CT source code to target map code correlation not specified