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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 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 anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Acrofacial dysostosis Kennedy Teebi type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Robinson nail dystrophy-deafness syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Metaphyseal dysplasia Braun Tinschert type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Exostosis, anetoderma, brachydactyly type E syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hidrotic ectodermal dysplasia Halal type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bilateral secondary renal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bilateral secondary renal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteochondrodysplasia co-occurrent with defects of growth of tubular bones and spine (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Progressive diaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acrofrontofacionasal dysostosis type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acrofrontofacionasal dysostosis type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hip dysplasia Beukes type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hip dysplasia Beukes type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Schimke immuno-osseous dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Karsch Neugebauer syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Mesomelic dysplasia Savarirayan type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acrofacial dysostosis Palagonia type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Atelosteogenesis type 1 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepiphyseal dysplasia tarda Kohn type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mitral leaflet dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloocular syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Blepharocheilodontic syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Atelosteogenesis type 3 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Deafness, enamel hypoplasia, nail defect syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Congenital hypoplasia of ulna and intellectual disability syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Short rib-polydactyly syndrome, Majewski type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome with periventricular heterotopia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome cardiac valvular type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Kozlowski spondylometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Book syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos and osteogenesis imperfecta syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos and osteogenesis imperfecta syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acrofacial dysostosis Rodriguez type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Bone dysplasia Azouz type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mitral valve dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Lipodystrophy, intellectual disability, deafness syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome progeroid type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome progeroid type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome kyphoscoliotic type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oculootoradial syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Scypho-patellar dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Coxoauricular syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepimetaphyseal dysplasia matrilin-3 type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome vascular-like type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dyschondrosteosis and nephritis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Patterson Stevenson Fontaine syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Bone dysplasia lethal Holmgren type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brittle cornea syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Smith McCort dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysspondyloenchondromatosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepimetaphyseal dysplasia Irapa type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Czech dysplasia metatarsal type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cerebro-facio-thoracic dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloenchondrodysplasia with immune dysregulation Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Johnson neuroectodermal syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ulna fibula ray defect and brachydactyly syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Dermatofibrosis lenticularis disseminata Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Anonychia with bizarre flexural pigmentation Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Camptomelic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Frontonasal dysplasia sequence Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Autosomal recessive popliteal pterygium syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Robinow-like syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Craniolenticulosutural dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Moynahan's syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteopenia, intellectual disability, sparse hair syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Short stature Brussels type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia with disorder of sex development syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oculotrichodysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dacryocystitis and osteopoikilosis syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acrofrontofacionasal dysostosis type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome with periventricular heterotopia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hidrotic ectodermal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Limb mammary syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Doughnut lesion of calvaria and bone fragility syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Coloboma of macula with brachydactyly type B syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1

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