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25283002: congenitale dysplasie (afwijkende morfologie)


    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
    752831000146111 congenitale dysplasie (afwijkende morfologie) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
    752841000146115 congenitale dysplasie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)


    0 descendants.

    Expanded Value Set


    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    congenitale dysplasie (afwijkende morfologie) Is a congenitale anomalie (afwijkende morfologie) false Inferred relationship Some
    congenitale dysplasie (afwijkende morfologie) Is a Dysplasia false Inferred relationship Some
    congenitale dysplasie (afwijkende morfologie) Is a Congenital malformation false Inferred relationship Some
    congenitale dysplasie (afwijkende morfologie) Is a gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some

    Inbound Relationships Type Active Source Characteristic Refinability Group
    spondylo-epimetafysaire dysplasie met gewrichtslaxiteit Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Osteodysplastic primordial dwarfism Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Osteodysplastic primordial dwarfism, type 1 Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    osteodysplastische primordiale dwerggroei type 2 Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Dysplasia with decreased bone density Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Osteogenesis imperfecta type IIA Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Osteogenesis imperfecta type IIB Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Osteoporosis with pseudoglioma Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Bruck syndrome Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Singleton-Merten syndrome Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Geroderma osteodysplastica (disorder) Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Dysplasia with defective mineralization Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Dysplasia with increased bone density (disorder) Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Dysosteosclerosis Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Osteosclerosis - Stanescu type Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Axial osteosclerosis (disorder) Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Osteomesopycnosis Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Osteopathia striata with cranial sclerosis (disorder) Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Endosteal hyperostoses Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Worth disease Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Endosteal hyperostoses with cerebellar hypoplasia Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Pachydermoperiostosis - familial Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Craniometaphyseal dysplasia - severe type Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Craniometaphyseal dysplasia - mild type Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Oculodento-osseous dysplasia Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Oculodento-osseous dysplasia - severe type Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Oculodento-osseous dysplasia - mild type Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Disorganized development of cartilaginous and fibrous components of the skeleton Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Dyschondroplasia Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Osteoglophonic dysplasia Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Fibrous dysplasia Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Idiopathic osteolyses Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Hereditary acroosteolysis (disorder) Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Carpal-tarsal osteolysis with nephropathy Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Winchester syndrome Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Torg type osteolysis Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Familial expansile osteolysis Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Enchondromatosis Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Idiopathic hyperphosphatasemia Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Osteogenesis imperfecta, perinatal lethal (disorder) Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Spondylodysplastic group Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Short rib dysplasia group (with or without polydactyly) Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    chondrodysplasie met kenmerkend fenotype (aandoening) Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Spondyloepiphyseal dysplasia congenita group (disorder) Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Chondrodysplasia punctata Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Bent bone dysplasia group Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Craniometadiaphyseal dysplasia Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Idiopathic multicentric osteolysis Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    pseudohypoparathyreoïdie en pseudopseudohypoparathyreoïdie type I (aandoening) Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Sialic storage disease Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Dysostosis multiplex group Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Acromesomelic dysplasia syndrome Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Osteogenesis imperfecta, type IV B Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Osteogenesis imperfecta, type IV A (disorder) Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    metafysaire chondrodysplasie type McKusick met geassocieerde immunodeficiëntie Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    multipele epifysaire dysplasie tarda type 3A Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Dysostosis of bone of skull Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Melnick-Needles syndrome Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Lenz-Majewski hyperostosis syndrome (disorder) Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Hypoplastic chondrodystrophy Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Congenital ovarian dysplasia Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Chondrodysplasia punctata congenita Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Achondrogenesis, type IB Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 2
    Vascular Ehlers-Danlos syndrome Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Fibrochondrogenesis Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Sclerosteosis Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Leri-Weill dyschondrosteosis Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Trichorhinophalangeal syndrome Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Juvenile GM1 gangliosidosis Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Ehlers-Danlos-syndroom type 2 Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Nail-patella syndrome Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Metatropic dysplasia Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 2
    Chondrodysplasia punctata, Conradi-Hünermann type Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 2
    Ehlers-Danlos syndrome Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 4
    Achondrogenesis Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Jansen type Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Infantile cortical hyperostosis Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 2
    syndroom van lymfopenische agammaglobulinemie en dwerggroei met korte extremiteiten Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 2
    Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    enostose (aandoening) Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Ectopic bone tissue, congenital Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 2
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 2
    Pyle metaphyseal dysplasia Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 2
    Uhl's disease Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 2
    Geleophysic dysplasia Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 2
    Metaphyseal chondrodysplasia Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Weill-Marchesani syndrome Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Schmid type Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Thanatophoric dysplasia Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Hypermobile Ehlers-Danlos syndrome (disorder) Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    keratoglobus door fragiliteit van cornea met blauwe sclera en gewrichtshypermobiliteit (aandoening) Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Greig cephalopolysyndactyly syndrome (disorder) Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Nievergelt's syndrome Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Sialic acid storage disease, severe infantile type Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Diaphyseal dysplasia Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Osteogenesis imperfecta with blue sclerae Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Combined deficiency of sialidase AND beta galactosidase Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Polyostotic fibrous dysplasia of bone Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1
    Craniometaphyseal dysplasia Associated morphology False congenitale dysplasie (afwijkende morfologie) Inferred relationship Some 1

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