Autosomal recessive hereditary disorder
Dysplasia with increased bone density
Ehlers-Danlos syndrome
Premature aging syndrome
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Ehlers-Danlos syndrome progeroid type (disorder)
Ehlers-Danlos syndrome progeroid type
B4GALT7-related spondylodysplastic EDS (Ehlers-Danlos syndrome)
Galactosyltransferase I deficiency
Xylosylprotein 4-beta-galactosyltransferase deficiency
Defective biosynthesis of proteodermatan sulfate
A form of Ehlers-Danlos syndrome (EDS) with characteristics of premature ageing with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia and defective wound healing with atrophic scars.
Ehlers-Danlos-syndroom van spondylodysplastisch type
spondylodysplastisch EDS
spEDS
spondylodysplastische vorm van Ehlers-Danlos-syndroom
Id720861000
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteConnective tissue structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteBone structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationAbove reference range
InterpretsBone density scan
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ79.6
RuleTRUE
AdviceALWAYS Q79.6
CorrelationSNOMED CT source code to target map code correlation not specified