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25283002: Congenital dysplasia (morphologic abnormality)

    Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

    Descriptions:

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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital dysplasia est un(e) (attribut) Congenital anomaly false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) dysplasie false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) Congenital malformation false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) Developmental abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Dyssegmental dysplasia with glaucoma syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Frontofacionasal dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Frontofacionasal dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Spondylocamptodactyly syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Autosomal dominant spondylocostal dysostosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Autosomal dominant spondylocostal dysostosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Heide syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Metaphyseal dysplasia Braun Tinschert type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    brachyolmie autosomique dominante morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Heide syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Mitral valve dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Mitral leaflet dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Truncal valve dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondyloepimetaphyseal dysplasia Irapa type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Congenital dysplasia of cardiac valve (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome kyphoscoliotic type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome kyphoscoliotic type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Defects of tubular bones and spine (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteochondrodysplasia co-occurrent with defects of growth of tubular bones and spine (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    dysplasie acromésomélique type Maroteaux morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Oro-facial digital syndrome type 9 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Oro-facial digital syndrome type 11 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 8
    Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Spondyloepiphyseal dysplasia Reardon type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Upington disease morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    12q14 microdeletion syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Brittle cornea syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Brittle cornea syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Spondyloepimetaphyseal dysplasia Missouri type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondyloepimetaphyseal dysplasia Shohat type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia tarda Kohn type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia Kimberley type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    dysplasie spondylo-épiphysaire type Maroteaux morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Short stature Brussels type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Spondyloepimetaphyseal dysplasia aggrecan type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Sparse hair with short stature and skin anomaly syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Pyknoachondrogenesis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Progressive non-infectious anterior vertebral fusion (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Pelvis shoulder dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Pelvis shoulder dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Pelviscapular dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Spondylometaphyseal dysplasia Schmidt type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Lethal recessive chondrodysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Leukoencephalopathy with metaphyseal chondrodysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Lethal Larsen-like syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Lelis syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Mesomelic dysplasia Kantaputra type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Cleidorhizomelic syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 8
    Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    X-linked mandibulofacial dysostosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    chondrodysplasie dominante liée à l'X type Chassaing-Lacombe morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Renal dysplasia with limb defect syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Ulna fibula ray defect and brachydactyly syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Congenital hypoplasia of ulna and intellectual disability syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Ulna fibula ray defect and brachydactyly syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Trichodysplasia with amelogenesis imperfecta syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Taurodontia with absent teeth and sparse hair syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Primary renal dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Secondary renal dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Bilateral secondary renal dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Bilateral secondary renal dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Acrofrontofacionasal dysostosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Acrofrontofacionasal dysostosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Acrofrontofacionasal dysostosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Acrocapitofemoral dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Acrocraniofacial dysostosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Acropectorovertebral dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Doughnut lesion of calvaria and bone fragility syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Campomelia Cumming type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Acrocraniofacial dysostosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Acrofacial dysostosis Catania type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Acrofacial dysostosis Catania type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Acrofacial dysostosis Kennedy Teebi type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Acrofacial dysostosis Kennedy Teebi type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Acrofacial dysostosis Palagonia type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Acrofacial dysostosis Palagonia type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    dysostose acrofaciale type Rodríguez morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Bone dysplasia Azouz type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Brachydactyly and arterial hypertension syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Camptodactyly syndrome Guadalajara type 2 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Cerebro-facio-thoracic dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Cerebro-facio-thoracic dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    dysostose acrofaciale type Rodríguez morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Ankylosing vertebral hyperostosis with tylosis syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Cerebro-facio-thoracic dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    syndrome coxo-podo-patellaire morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1

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