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25283002: Congenital dysplasia (morphologic abnormality)


    Status: retired, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

    Descriptions:

    Id Description Lang Type Status Case? Module
    42393010 Congenital dysplasia en Synonym Active Case insensitive SNOMED CT core
    755582019 Congenital dysplasia (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital dysplasia Is a Congenital anomaly false Inferred relationship Some
    Congenital dysplasia Is a Dysplasia false Inferred relationship Some
    Congenital dysplasia Is a Congenital malformation false Inferred relationship Some
    Congenital dysplasia Is a Developmental abnormality false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Dyssegmental dysplasia with glaucoma syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Gollop syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Gollop syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Verloes Bourguignon syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Spondylocamptodactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Autosomal dominant spondylocostal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Autosomal dominant spondylocostal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Heide syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Metaphyseal dysplasia Braun Tinschert type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Autosomal dominant brachyolmia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Heide syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Craniofrontonasal dysplasia with Poland anomaly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Mitral valve dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mitral leaflet dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Truncal valve dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepimetaphyseal dysplasia Irapa type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Congenital dysplasia of cardiac valve Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome kyphoscoliotic type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome kyphoscoliotic type Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Defects of tubular bones and spine Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteochondrodysplasia co-occurrent with defects of growth of tubular bones and spine Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Acromesomelic dysplasia Maroteaux type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Orofaciodigital syndrome type 9 Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Lissencephaly type 3 metacarpal bone dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Orofaciodigital syndrome type 11 Associated morphology False Congenital dysplasia Inferred relationship Some 8
    Spondyloepiphyseal dysplasia MacDermot type Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Spondyloepiphyseal dysplasia Reardon type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Upington disease Associated morphology False Congenital dysplasia Inferred relationship Some 2
    12q14 microdeletion syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Brittle cornea syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Brittle cornea syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Spondyloepiphyseal dysplasia Cantu type Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Spondyloepimetaphyseal dysplasia Missouri type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepimetaphyseal dysplasia PAPSS2 type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepimetaphyseal dysplasia Shohat type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia tarda Kohn type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia Kimberley type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepiphyseal dysplasia Maroteaux type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Short stature Brussels type Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Spondyloepimetaphyseal dysplasia aggrecan type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepimetaphyseal dysplasia matrilin-3 type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Sparse hair with short stature and skin anomaly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Pyknoachondrogenesis Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Progressive non-infectious anterior vertebral fusion Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pelvis shoulder dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pelvis shoulder dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Pelviscapular dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Spondylometaphyseal dysplasia Schmidt type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Lethal recessive chondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Lethal Larsen-like syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Lelis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Mesomelic dysplasia Kantaputra type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Cleidorhizomelic syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia Nishimura type Associated morphology False Congenital dysplasia Inferred relationship Some 8
    Autosomal dominant palmoplantar keratoderma and congenital alopecia Associated morphology False Congenital dysplasia Inferred relationship Some 6
    X-linked mandibulofacial dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    X-linked dominant chondrodysplasia Chassaing Lacombe type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ulbright Hodes syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ulna fibula ray defect and brachydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Trichomegaly with retina pigmentary degeneration and dwarfism syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Congenital hypoplasia of ulna and intellectual disability syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ulna fibula ray defect and brachydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Trichodysplasia with amelogenesis imperfecta syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Taurodontia with absent teeth and sparse hair syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Tricho-retino-dento-digital syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Primary renal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Secondary renal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bilateral secondary renal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Bilateral secondary renal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Acrofrontofacionasal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Acrofrontofacionasal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Acrofrontofacionasal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Acrocapitofemoral dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acrocraniofacial dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Acropectorovertebral dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Calvarial doughnut lesion with bone fragility syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Campomelia Cumming type Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Acrocraniofacial dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Acrofacial dysostosis Catania type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acrofacial dysostosis Catania type Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Acrofacial dysostosis Kennedy Teebi type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acrofacial dysostosis Kennedy Teebi type Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Acrofacial dysostosis Palagonia type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acrofacial dysostosis Palagonia type Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Acrofacial dysostosis Rodriguez type Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Bone dysplasia Azouz type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Brachydactyly and arterial hypertension syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Brachymorphism with onychodysplasia and dysphalangism syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Camptodactyly syndrome Guadalajara type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Cerebro-facio-thoracic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Cerebro-facio-thoracic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Acrofacial dysostosis Rodriguez type Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ankylosing vertebral hyperostosis with tylosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Acro-dermato-ungual-lacrimal-tooth syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Camptodactyly and tall stature with scoliosis and hearing loss syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Cerebro-facio-thoracic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Coxopodopatellar syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1

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    Reference Sets

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