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CHILD-syndroom (aandoening)
CHILD-syndroom
CHILD syndrome
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome
CHILD (congenital hemidysplasia, ichthyosiform erythroderma, limb defects) syndrome
A rare developmental defect during embryogenesis with characteristics of unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. NSDHL (Xq28) encodes a protein responsible for cholesterol biosynthesis, mutations are typically lethal in males. X-inactivation creates a mosaic of cells lacking the enzyme in females, disrupting embryonic development and leading to a highly variable spectrum of anomalies. Transmission is X-linked dominant.
Id17608003
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
Interpretskeratinisatie
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ80.9
TermCongenitale ichthyose, niet gespecificeerd
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map139
SNOMED CT to ICD-10 extended map
TargetQ87.5
RuleTRUE
AdviceALWAYS Q87.5
CorrelationSNOMED CT source code to target map code correlation not specified
TargetT74.1
RuleTRUE
AdviceALWAYS T74.1
CorrelationSNOMED CT source code to target map code correlation not specified
TargetT74.9
RuleTRUE
AdviceALWAYS T74.9
CorrelationSNOMED CT source code to target map code correlation not specified