autosomaal recessieve hereditaire aandoening	hereditaire aandoening van bewegingsapparaat	hereditaire ontwikkelingsstoornis	spondylo-epimetafysaire dysplasie
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spondylo-epimetafysaire dysplasie 3'-fosfoadenosine-5'-fosfosulfaat-synthase-2-type (aandoening)
	spondylo-epimetafysaire dysplasie 3'-fosfoadenosine-5'-fosfosulfaat-synthase-2-type
	SEMD PAPSS2-type spondylo-epimetafysaire dysplasie Pakistani-type
	Spondyloepimetaphyseal dysplasia PAPSS2 type
	Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type Spondyloepimetaphyseal dysplasia PAPSS2 (3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2) type Spondyloepimetaphyseal dysplasia Pakistani type
	Disorder with characteristics of short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. The syndrome has been described a large eight-generation consanguineous Pakistani family. Caused by mutations in the PAPSS2 gene (10q22-q24). Inherited in an autosomal recessive manner.

Id	719172003
Status	Primitive

Associated morphology	dysplasie
Finding site	botstructuur
Occurrence	congenitaal
Pathological process	proces van pathologische ontwikkeling

Interprets

meetbare observatie betreffende lengte en/of groei

DHD Diagnosis thesaurus reference set

SNOMED CT to Orphanet simple map

93282

SNOMED CT to ICD-10 extended map

Target	Q77.7
Rule	TRUE
Advice	ALWAYS Q77.7
Correlation	SNOMED CT source code to target map code correlation not specified