Autosomal recessive hereditary disorder	Developmental hereditary disorder	Hereditary disorder of musculoskeletal system	Spondyloepimetaphyseal disorder
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Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder)
	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.
	spondylo-epimetafysaire dysplasie 3'-fosfoadenosine-5'-fosfosulfaat-synthase-2-type
	SEMD PAPSS2-type spondylo-epimetafysaire dysplasie Pakistani-type

Id	719172003
Status	Primitive

Associated morphology	Dysplasia
Finding site	Bone structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Interprets

Height / growth measure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

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