histiocytose-lymfadenopathie plus-syndroom (aandoening)
histiocytose-lymfadenopathie plus-syndroom
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.
Finding sitestructuur van huid
Associated morphologyhistiocytose - categorie
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS D76.3
CorrelationSNOMED CT source code to target map code correlation not specified