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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
    42394016 Congenital dysplasia, NOS en Synonym Inactive Initial character 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
    Spondyloepiphyseal dysplasia tarda Kohn type 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, lymphoedema syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mitral leaflet dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylo-ocular syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Blepharocheilodontic syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Atelosteogenesis type 3 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Deafness, enamel hypoplasia, nail defect syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Congenital hypoplasia of ulna and intellectual disability syndrome 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 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 MacDermot type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome cardiac valvular type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Tricho-retino-dento-digital syndrome 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 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia Cantu type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Book syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pai syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Epilepsy, microcephaly, skeletal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acro-dermato-ungual-lacrimal-tooth syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Spondyloepiphyseal dysplasia Nishimura type 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 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 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome progeroid type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome progeroid type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome kyphoscoliotic type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    IVIC syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Scypho-patellar dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Coxoauricular syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepimetaphyseal dysplasia matrilin-3 type 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 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Lowry Wood syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Bone dysplasia lethal Holmgren type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brittle cornea syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Smith McCort dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysspondyloenchondromatosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepimetaphyseal dysplasia Irapa type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Czech dysplasia metatarsal type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cerebro-facio-thoracic dysplasia 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 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 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
    Bartsocas Papas syndrome 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 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Craniolenticulosutural dysplasia 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 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Short stature Brussels type 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 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oculotrichodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dacryocystitis and osteopoikilosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Alopecia, contracture, dwarfism, intellectual disability syndrome 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 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome 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 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Calvarial doughnut lesion with bone fragility syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome musculocontractural type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Coloboma of macula with brachydactyly type B syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Campomelia Cumming type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    RHYNS syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Camptodactyly and tall stature with scoliosis and hearing loss syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Metaphyseal chondrodysplasia, McKusick type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ossification anomaly with psychomotor developmental delay syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Trichodysplasia with amelogenesis imperfecta syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    CHIME syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Frank-Ter Haar syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Thoracolaryngopelvic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Microcephalic osteodysplastic primordial dwarfism types I and III Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia with blindness syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hay-Wells syndrome of ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Heart-hand syndrome type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Sparse hair with short stature and skin anomaly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    DOORS syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Guttmacher syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Heart-hand syndrome Slovenian type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ulbright Hodes syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    McCune Albright syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    X-linked mandibulofacial dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1

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    Reference Sets

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    SAME AS association reference set

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