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 morphologyhistiocytaire proliferatie
DHD Diagnosethesaurus-referentieset
referentieset met complexe door RIVM geautoriseerde nationale 'mapping' naar ICD-10 voor diagnosethesaurus
TermOverige histiocytosesyndromen
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS D76.3
CorrelationSNOMED CT source code to target map code correlation not specified