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Neu-Laxova-syndroom (aandoening)
Neu-Laxova-syndroom
syndroom van Neu-Laxova
Neu-Laxova syndrome
NLS - Neu-Laxova syndrome
3-phosphoglycerate dehydrogenase deficiency neonatal form
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 Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
TargetQ04.3
TermOverige onderontwikkeling van hersenen
TargetE72.8
TermOverige gespecificeerde stofwisselingsstoornissen van aminozuren
SNOMED CT to Orphanet simple map2671
SNOMED CT to ICD-10 extended map
TargetQ04.4
RuleTRUE
AdviceALWAYS Q04.4
CorrelationSNOMED CT source code to target map code correlation not specified