|||||
Neu-Laxova syndrome (disorder)
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.
Neu-Laxova-syndroom
syndroom van Neu-Laxova
Id77817004
StatusPrimitive
Associated morphologyCongenital smallness
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationAbnormal
InterpretsKeratinization
Associated morphologyHyperkeratosis
Finding siteEntire skin
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ04.4
RuleTRUE
AdviceALWAYS Q04.4
CorrelationSNOMED CT source code to target map code correlation not specified