acrale zelfhelende collodionbaby (aandoening)
acrale zelfhelende collodionbaby
acrale SHCB
acral self-healing collodion baby
Acral self-healing collodion baby
A variant of self-healing collodion baby with manifestation of the presence at birth of a collodion membrane only at the extremities. Only 2 cases were described in the literature. In both cases, the babies healed soon after birth. In one case, molecular analysis was performed that revealed mutations in the TGM1 gene encoding transglutaminase 1, an enzyme involved in the cornification of the stratum corneum.
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 map281127
SNOMED CT to ICD-10 extended map
AdviceALWAYS Q80.2
CorrelationSNOMED CT source code to target map code correlation not specified