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 Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermOverige histiocytosesyndromen
SNOMED CT to Orphanet simple map168569
SNOMED CT to ICD-10 extended map
AdviceALWAYS D76.3
CorrelationSNOMED CT source code to target map code correlation not specified