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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
    Craniometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Langer mesomelic dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Spondyloepiphyseal dysplasia congenita Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Langer-Giedion syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Leri's pleonosteosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ehlers-Danlos syndrome, procollagen proteinase resistant Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Pseudohypoparathyroidism type II Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Oto-palato-digital syndrome, type II Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Achondrogenesis, type IA Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Atelosteogenesis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Melorheostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Feline osteogenesis imperfecta Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Madelung's deformity Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Maffucci syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteochondrodysplasia with osteopetrosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Beals auriculo-osteodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ehlers-Danlos syndrome, type 8 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Spondyloepiphyseal dysplasia tarda Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Cherubism Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Kniest dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Oto-palato-digital syndrome, type I Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteogenesis imperfecta with progressive deformity AND normal sclerae Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Aspartylglucosaminuria Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ehlers-Danlos syndrome, procollagen proteinase deficient Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Pseudohypoparathyroidism type I B Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Juvenile fucosidosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Rhizomelic chondrodysplasia punctata syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Mannosidosis, type II Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Diastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Pseudohypoparathyroidism type I A Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Menkes kinky-hair syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Cutis laxa, x-linked Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Multiple epiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Hyperphosphatasemia tarda Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Dermatofibrosis lenticularis disseminata Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Infantile fucosidosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Mannosidosis, type I Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Chondroectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Multiple synostosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Frontometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Antley-Bixler syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Hajdu-Cheney syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Larsen syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Accessory ossification center Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Brachydactyly syndrome type E Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteogenesis imperfecta with blue sclerae AND normal teeth Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Fucosidosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Mannosidosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Pseudo-Hurler polydystrophy Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Cleidocranial dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Miller syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Acrodysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Vitamin D-dependent rickets, type 1 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome, type 5 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Vitamin D-dependent rickets Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    I-cell disease Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ehlers-Danlos syndrome, recessive type 4 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ehlers-Danlos syndrome, familial joint laxity type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteogenesis imperfecta, dominant perinatal lethal Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Vitamin D-dependent rickets, type 2 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Short rib-polydactyly syndrome, Majewski type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Camptomelic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Jeune thoracic dystrophy Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Robinow syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Hyperphosphatasia-osteoectasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Metaphyseal chondrodysplasia, McKusick type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Grebe syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteogenesis imperfecta Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Stickler syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Familial x-linked hypophosphatemic vitamin D refractory rickets Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteopathia striata Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Dyggve-Melchior-Clausen syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Progressive myositis ossificans Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ehlers-Danlos syndrome, type 1 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ehlers-Danlos syndrome, dysfibronectinemic Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Chondrodystrophy malacia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Multiple exostoses syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Achondroplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Osteogenesis imperfecta, recessive perinatal lethal Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ehlers-Danlos syndrome, dominant type 4 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Salla disease Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Hyperplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Shwachman syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Pyknodysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Osteopoikilosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Lethal Kniest-like syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Rolland-Debuqois syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Hyperphosphatasemia with bone disease Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Paralytic calcification / ossification of muscle Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Chondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Lethal retarded ossification syndromes Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Short rib polydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Chondrodysplasia punctata Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Chondrodysplasia, otherwise specified Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteodysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteogenesis imperfecta - unclassifiable Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Hypophosphatemic rickets with nephrotic-glycosuric dwarfism Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Multiple exostosis syndromes Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteochondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Multiple congenital exostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1

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