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25283002: Congenital dysplasia (morphologic abnormality)

    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
    42394016 Congenital dysplasia, NOS en Synonym (core metadata concept) Inactive Only initial character 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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital dysplasia est un(e) (attribut) Congenital anomaly false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) dysplasie false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) Congenital malformation false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) Developmental abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Dermatofibrosis lenticularis disseminata morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata, X-linked dominant type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Desbuquois syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Acrodysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Idiopathic multicentric osteolysis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Sponastrime dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Atelosteogenesis type 2 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Endosteal hyperostoses with cerebellar hypoplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Achondrogenesis, type II morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia with joint laxity (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Namaqualand hip dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Osteodysplastic primordial dwarfism, type 1 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Symphalangism-brachydactyly syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta type IIA morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Osteodysplastic primordial dwarfism, type 2 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Yunis-Varon dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Congenital exostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Dysostosis multiplex morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Mixed sclerosing bone dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Type III short rib polydactyly syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Short rib polydactyly syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Diaphyseal medullary stenosis with bone malignancy (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Defects of the tubular (and flat) bones and/or axial skeleton morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Lenz-Majewski hyperostosis syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Hypochondrogenesis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Osteopathia striata morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Polyostotic fibrous dysplasia of bone morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    dysplasie de Kniest (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Shwachman syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Dysplasia epiphysealis hemimelica morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Osteochondrodysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Nail-patella syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Osteodysplastic primordial dwarfism morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    dysplasie en boomerang morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia tarda type IIIa morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia punctata, Conradi-Hünermann type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Combined deficiency of sialidase AND beta galactosidase morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Pachydermoperiostosis - familial morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta, recessive perinatal lethal morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Dappled diaphyseal dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Atelosteogenesis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Adult fucosidosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Fronto-frontal dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Osteogenesis imperfecta, type IV B morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Leri's pleonosteosis syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal chondrodysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    dysplasie spondylo-épiphysaire tardive (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondylodysplasia, Luton type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Thanatophoric dysplasia, type 1 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta with blue sclerae AND normal teeth morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Craniometadiaphyseal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Menkes kinky-hair syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondyloenchondrodysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Osteodysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Short rib dysplasia group (with or without polydactyly) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Opsismodysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Bent bone dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Omodysplasia II morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Saldino-Mainzer dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Infantile GM1 gangliosidosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Metachondromatosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Dysplasias with significant membranous bone involvement morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Carpal-tarsal osteolysis with nephropathy morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Juvenile idiopathic generalized osteoporosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Diastrophic dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Kniest-Stickler dysplasia group morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Scypho-patellar dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    chondrodysplasie ponctuée rhizomélique morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Pseudodiastrophic dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Patella dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    3-M syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Spheno-frontal dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Dysostosis of bone of skull morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    dysplasie acromicrique morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Otomandibular dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Achondroplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Brachydactyly syndrome type B (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Cleidocranial dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Baller-Gerold syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Brachydactyly syndrome type C (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Short rib-polydactyly syndrome, Majewski type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Shwachman syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Short rib-polydactyly syndrome, non-Majewski type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Fronto-frontal dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Oculodento-osseous dysplasia - severe type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Hypoplastic chondrodystrophy morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Leri-Weill dyschondrosteosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Hyperplastic chondrodystrophy morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Otomandibular dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Craniometaphyseal dysplasia - severe type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Zygo-auro-mandibular dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Achondroplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Furst-Ostrum syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Brachydactyly syndrome type E morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Oculodento-osseous dysplasia - mild type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    dysplasie cranio-métaphysaire (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Craniometaphyseal dysplasia - mild type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Stickler syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Fronto-malar faciosynostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    carpocyphose morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2

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