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25283002: Congenital dysplasia (morphologic abnormality)

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

    Descriptions:

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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital dysplasia Is a Congenital anomaly false Inferred relationship Existential restriction modifier
    Congenital dysplasia Is a Dysplasia false Inferred relationship Existential restriction modifier
    Congenital dysplasia Is a Congenital malformation false Inferred relationship Existential restriction modifier
    Congenital dysplasia Is a Developmental anomaly false Inferred relationship Existential restriction modifier
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Mohr syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Odontotrichomelic syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Orofacial-digital syndrome III Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Orofacial-digital syndrome IV Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Oral-facial-digital syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Oculodento-osseous dysplasia - severe type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 9
    Oculodento-osseous dysplasia - mild type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 9
    Ehlers-Danlos syndrome classic type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome classic type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Weismann Netter syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Mirror hands and feet co-occurrent with nasal defect Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Rhizomelic dysplasia of Patterson Lowry type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Chondrodysplasia punctata Toriello type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Gnathodiaphyseal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Mesomelic dysplasia Savarirayan type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Spondyloocular syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Renal dysplasia co-occurrent with megalocystis and sirenomelia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ulna metaphyseal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Multiple non-ossifying fibromatosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Mesomelic dysplasia of hypoplastic ulna and fibula type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ischio-vertebral syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Brachyolmia type 1 Toledo type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Multiple epiphyseal dysplasia type 4 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Multiple epiphyseal dysplasia type 4 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Multiple epiphyseal dysplasia type 1 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Multiple epiphyseal dysplasia type 1 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Multiple epiphyseal dysplasia type 5 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Multiple epiphyseal dysplasia type 5 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Cerebellar ataxia co-occurrent with ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Ameloonychohypohidrotic syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ischio-vertebral syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Skeletal dysplasia with epilepsy and short stature syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Brachydactylous dwarfism Mseleni type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Micromelic spondyloepimetaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 6
    Cleft lip and cleft palate with ectodermal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Mesomelic dysplasia with cleft palate and camptodactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 8
    Ectodermal dysplasia with natal teeth Turnpenny type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Dysplasia of head of femur Meyer type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Smith McCort dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Dyssegmental dysplasia with glaucoma syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Frontofacionasal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Frontofacionasal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Spondylocamptodactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Autosomal dominant spondylocostal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Autosomal dominant spondylocostal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Metaphyseal dysplasia Braun Tinschert type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Autosomal dominant brachyolmia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Craniofrontonasal dysplasia with Poland anomaly syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Mitral valve dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Mitral leaflet dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Truncal valve dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Spondyloepimetaphyseal dysplasia Irapa type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Congenital dysplasia of cardiac valve Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ehlers-Danlos syndrome kyphoscoliotic type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome kyphoscoliotic type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Defects of tubular bones and spine Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteochondrodysplasia co-occurrent with defects of growth of tubular bones and spine Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Acromesomelic dysplasia Maroteaux type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Oro-facial digital syndrome type 9 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 6
    Lissencephaly type 3 metacarpal bone dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Oro-facial digital syndrome type 11 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 8
    Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Spondyloepiphyseal dysplasia Reardon type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Hip dysplasia with enchondromata and ecchondroma syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    12q14 microdeletion syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 6
    Brittle cornea syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Brittle cornea syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Spondyloepimetaphyseal dysplasia Missouri type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Spondyloepimetaphyseal dysplasia 3-prime-phosphoadenosine 5-prime-phosphosulfate synthase 2 type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Spondyloepimetaphyseal dysplasia Shohat type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Spondyloepiphyseal dysplasia tarda Kohn type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Spondyloepiphyseal dysplasia Kimberley type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Spondyloepiphyseal dysplasia Maroteaux type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Spondylometaphyseal dysplasia with cone-rod dystrophy syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Short stature Brussels type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 6
    Spondyloepimetaphyseal dysplasia aggrecan type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Spondyloepimetaphyseal dysplasia matrilin-3 type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Sparse hair with short stature and skin anomaly syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Pyknoachondrogenesis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 6
    Progressive non-infectious anterior vertebral fusion Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Pelvis shoulder dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Pelvis shoulder dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Pelviscapular dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Spondylometaphyseal dysplasia Schmidt type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Lethal recessive chondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Leukoencephalopathy with metaphyseal chondrodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Lethal Larsen-like syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ectodermal dysplasia with acanthosis nigricans syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Mesomelic dysplasia Kantaputra type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Cleidorhizomelic syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 8
    Autosomal dominant palmoplantar keratoderma and congenital alopecia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 6
    X-linked mandibulofacial dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    X-linked dominant chondrodysplasia Chassaing Lacombe type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Renal dysplasia with limb defect syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3

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