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Neu-Laxova-syndroom (aandoening)
Neu-Laxova-syndroom
syndroom van Neu-Laxova
Neu-Laxova syndrome
3-phosphoglycerate dehydrogenase deficiency neonatal form
NLS - Neu-Laxova syndrome
A rare multiple malformation syndrome with characteristics of severe intrauterine growth retardation, severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism. Severe central nervous system defects are present. The syndrome is transmitted in an autosomal recessive manner.
Id77817004
StatusPrimitive
Associated morphologycongenitale kleinheid
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
Interpretskeratinisatie
Associated morphologyhyperkeratose
Finding sitegehele huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetQ04.4
RuleTRUE
AdviceALWAYS Q04.4
CorrelationSNOMED CT source code to target map code correlation not specified