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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
    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
    Short rib dysplasia group (with or without polydactyly) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Kniest-Stickler dysplasia group Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepiphyseal dysplasia congenita Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bent bone dysplasia group Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Craniometadiaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Idiopathic multicentric osteolysis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pseudohypoparathyroidism and pseudopseudohypoparathyroidism type I Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Sialic storage disease Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysostosis multiplex group Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acromesomelic dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, type IV B Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, type IV A Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia tarda type IIIa Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysostosis of bone of skull Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Melnick-Needles syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Lenz-Majewski hyperostosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypoplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Congenital ovarian dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata congenita Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Achondrogenesis, type IB Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, type 4 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Fibrochondrogenesis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Sclerosteosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Leri-Weill dyschondrosteosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Trichorhinophalangeal syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Juvenile GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Nail-patella syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metatropic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia punctata, Conradi-Hünermann type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Achondrogenesis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Jansen type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Infantile cortical hyperostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Lymphopenic agammaglobulinaemia - short-limbed dwarfism syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bone island Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectopic bone tissue, congenital Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pyle metaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Uhl's disease Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Geleophysic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal chondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Weill-Marchesani syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Schmid type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Thanatophoric dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, type 3 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Greig cephalopolysyndactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Nievergelt's syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Sialic acid storage disease, severe infantile type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Diaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta with blue sclerae Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Combined deficiency of sialidase AND beta galactosidase Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Polyostotic fibrous dysplasia of bone Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Craniometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Langer mesomelic dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia congenita Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Langer-Giedion syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Leri's pleonosteosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, procollagen proteinase resistant Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pseudohypoparathyroidism type II Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oto-palato-digital syndrome, type II Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Achondrogenesis, type IA Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Atelosteogenesis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Melorheostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Feline osteogenesis imperfecta Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Madelung's deformity Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Maffucci syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteochondrodysplasia with osteopetrosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Beals auriculo-osteodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, type 8 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepiphyseal dysplasia tarda Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Cherubism Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Kniest dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Oto-palato-digital syndrome, type I Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta with progressive deformity AND normal sclerae Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Aspartylglucosaminuria Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, procollagen proteinase deficient Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pseudohypoparathyroidism type I B Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Juvenile fucosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Rhizomelic chondrodysplasia punctata syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mannosidosis, type II Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Diastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pseudohypoparathyroidism type I A Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Menkes kinky-hair syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cutis laxa, x-linked Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hyperphosphatasaemia tarda Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dermatofibrosis lenticularis disseminata Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Infantile fucosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mannosidosis, type I Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondroectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple synostosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Frontometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Antley-Bixler syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hajdu-Cheney syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2

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    Reference Sets

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