zelfhelende collodionbaby (aandoening)
zelfhelende collodionbaby
self-healing collodion baby
zelfhelende collodiumbaby
Self-healing collodion baby
A minor variant of autosomal recessive congenital ichthyosis with manifestation of a collodion membrane at birth that heals within the first weeks of life. The exact prevalence is unknown. Approximately 25 cases have been reported in the literature. After the shedding of the membrane, patients present with mild scaling. Caused by mutations in the TGM1, ALOXE3 or ALOX12B genes encoding respectively transglutaminase 1, involved in the cornification of the stratum corneum, and arachidonate 3 and 12(R) lipoxygenases involved in lipid metabolism. Transmission is autosomal recessive.
Associated morphologyproliferatieve hyperkeratose
Finding sitegehele huid
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TermLamellaire ichthyose
SNOMED CT to Orphanet simple map281122
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q80.2
CorrelationSNOMED CT source code to target map code correlation not specified