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Spondyloepimetaphyseal disorder 254062008 SNOMED CT code SNOMED code 254062008 name Spondyloepimetaphyseal disorder status active date introduced 2002-01-31 fully specified name(s) Spondyloepimetaphyseal disorder (disorder) synonyms Spondyloepimetaphyseal dysplasia Spondyloepimetaphyseal disorder attributes - group1 Occurrence Congenital 255399007 Pathological process Pathological developmental process 308490002 Associated morphology Dysplasia 25723000 Finding site Bone structure 272673000 attributes - group2 Interprets Height / growth measure 271603002 parents Metaphyseal chondrodysplasia 28681006 children Autosomal recessive spondyloepimetaphyseal dysplasia 254063003 removed: 2017-01-31 Cataract, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome 1220595008 Cono-spondylar dysplasia 766874001 Czech dysplasia metatarsal type 720826006 Dyggve-Melchior-Clausen syndrome 82699004 Dyssegmental dysplasia Silverman Handmaker type 765204000 Immuno-osseous dysplasia 254067002 Namaqualand hip dysplasia 254064009 Opsismodysplasia 254068007 Otospondylomegaepiphyseal dysplasia 254060000 Progressive pseudorheumatoid dysplasia 254065005 Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome 1187303004 Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome 22567005 Rolland-Debuqois syndrome 95243004 Smith McCort dysplasia 715862006 Sponastrime dysplasia 389161008 Spondylo-megaepiphyseal-metaphyseal dysplasia 773693005 Spondyloepimetaphyseal dysplasia aggrecan type 719165004 Spondyloepimetaphyseal dysplasia anauxetic type 764460003 Spondyloepimetaphyseal dysplasia Bieganski type 773301007 removed: 2020-07-31 Spondyloepimetaphyseal dysplasia Genevieve type 773303005 Spondyloepimetaphyseal dysplasia Handigodu type 763885008 Spondyloepimetaphyseal dysplasia Irapa type 717330004 Spondyloepimetaphyseal dysplasia Isidor type 782821004 Spondyloepimetaphyseal dysplasia matrilin-3 type 719166003 Spondyloepimetaphyseal dysplasia Missouri type 719171005 Spondyloepimetaphyseal dysplasia PAPSS2 type 719172003 Spondyloepimetaphyseal dysplasia Shohat type 719201004 Spondyloepimetaphyseal dysplasia with joint laxity Beighton type 1286833006 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type 1286834000 Spondyloepimetaphyseal dysplasia with multiple dislocations 766820007 Spondyloepimetaphyseal dysplasia, abnormal dentition syndrome 773302000 Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome 773300008 Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome 766821006 Spondyloepiphyseal dysplasia tarda 51952004 Spondyloepiphyseal dysplasia with congenital joint dislocations 702400006 X-linked spondyloepimetaphyseal dysplasia 770603000 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 64572001 5294002 371521007 8447006 28681006 254062008 ancestors sorted most to least specific
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