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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
    42394016 Congenital dysplasia, NOS en Synonym Inactive Only initial character 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
    Acrofacial dysostosis Kennedy Teebi type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Robinson nail dystrophy-deafness 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 1
    Exostosis, anetoderma, brachydactyly type E syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Microcephalic osteodysplastic dysplasia Saul Wilson type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Hidrotic ectodermal dysplasia Halal type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Bilateral secondary renal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Bilateral secondary renal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Osteochondrodysplasia co-occurrent with defects of growth of tubular bones and spine Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Progressive diaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Acrofrontofacionasal dysostosis type 2 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Acrofrontofacionasal dysostosis type 2 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Spondyloepiphyseal dysplasia with congenital joint dislocations Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Hip dysplasia Beukes type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Hip dysplasia Beukes type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Schimke immuno-osseous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Karsch Neugebauer syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Mesomelic dysplasia Savarirayan type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Acrofacial dysostosis Palagonia type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Mesomelic dysplasia of hypoplastic ulna and fibula type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Atelosteogenesis type 1 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Spondyloepiphyseal dysplasia tarda Kohn type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Mitral leaflet dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Spondyloocular syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Blepharocheilodontic syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Atelosteogenesis type 3 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Deafness, enamel hypoplasia, nail defect syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Congenital hypoplasia of ulna and intellectual disability syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Short rib-polydactyly syndrome, Majewski type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ehlers-Danlos syndrome with periventricular heterotopia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ehlers-Danlos syndrome cardiac valvular type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Kozlowski spondylometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Book syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Epilepsy, microcephaly, skeletal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Acro-dermato-ungual-lacrimal-tooth syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Spondyloepiphyseal dysplasia, craniosynostosis, cleft palate, cataract and intellectual disability syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Ehlers-Danlos and osteogenesis imperfecta syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos and osteogenesis imperfecta syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Acrofacial dysostosis Rodriguez type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Bone dysplasia Azouz type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Mitral valve dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Lipodystrophy, intellectual disability, deafness syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ehlers-Danlos syndrome progeroid type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ehlers-Danlos syndrome progeroid 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 1
    Oculootoradial syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Scypho-patellar dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Coxoauricular syndrome 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 1
    Ehlers-Danlos syndrome vascular-like type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Dyschondrosteosis and nephritis syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Patterson Stevenson Fontaine syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Epiphyseal dysplasia, microcephalus, nystagmus syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Bone dysplasia lethal Holmgren type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Brittle cornea syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Smith McCort dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Dysspondyloenchondromatosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Spondyloepimetaphyseal dysplasia Irapa type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Czech dysplasia metatarsal type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Cerebro-facio-thoracic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Spondyloenchondrodysplasia with immune dysregulation Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Johnson neuroectodermal syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Periodontitis co-occurrent with Ehlers-Danlos syndrome type 4 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ulna fibula ray defect and brachydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Dermatofibrosis lenticularis disseminata Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Anonychia with bizarre flexural pigmentation Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Camptomelic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Frontonasal dysplasia sequence Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Autosomal recessive popliteal pterygium syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Robinow-like syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Craniolenticulosutural dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Moynahan's syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Osteopenia, intellectual disability, sparse hair syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Short stature Brussels type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Chondrodysplasia with disorder of sex development syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Oculotrichodysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Dacryocystitis and osteopoikilosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Alopecia, contracture, dwarfism, intellectual disability syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Acrofrontofacionasal dysostosis type 2 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Ehlers-Danlos syndrome with periventricular heterotopia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Hidrotic ectodermal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Limb mammary syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Doughnut lesion of calvaria and bone fragility syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome musculocontractural type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Coloboma of macula with brachydactyly type B syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1

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