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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
    755582019 Congenital dysplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    8221000052116 kongenital dysplasi sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    kongenital dysplasi Is a kongenital anomali false Inferred relationship Some
    kongenital dysplasi Is a Dysplasia false Inferred relationship Some
    kongenital dysplasi Is a medfödd missbildning false Inferred relationship Some
    kongenital dysplasi Is a utvecklingsabnormitet false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Saldino-Mainzer dysplasia Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Infantile GM1 gangliosidosis Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Metachondromatosis Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Dysplasias with significant membranous bone involvement Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Carpal-tarsal osteolysis with nephropathy Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Juvenile idiopathic generalized osteoporosis Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Diastrophic dysplasia Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Kniest-Sticklers dysplasigrupp Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Scypho-patellar dysplasia (disorder) Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Rhizomelic chondrodysplasia punctata syndrome Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Pseudodiastrophic dysplasia Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Patella dysplasia Associated morphology False kongenital dysplasi Inferred relationship Some 3
    3-M syndrome Associated morphology False kongenital dysplasi Inferred relationship Some 1
    Spheno-frontal dysostosis Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Dysostosis of bone of skull Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Acromicric dysplasia (disorder) Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Otomandibular dysostosis Associated morphology False kongenital dysplasi Inferred relationship Some 4
    Achondroplasia Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Brachydactyly syndrome type B (disorder) Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Cleidocranial dysostosis Associated morphology False kongenital dysplasi Inferred relationship Some 6
    Baller-Gerold syndrome Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Brachydactyly syndrome type C (disorder) Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Short rib-polydactyly syndrome, Majewski type Associated morphology False kongenital dysplasi Inferred relationship Some 5
    Shwachman syndrome Associated morphology False kongenital dysplasi Inferred relationship Some 4
    korta revben-polydaktylisyndrom typ 1 Associated morphology False kongenital dysplasi Inferred relationship Some 5
    Fronto-frontal dysostosis Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Oculodento-osseous dysplasia - severe type Associated morphology False kongenital dysplasi Inferred relationship Some 6
    Hypoplastic chondrodystrophy Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Leri-Weill dyschondrosteosis Associated morphology False kongenital dysplasi Inferred relationship Some 3
    hyperplastisk kondrodystrofi Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Otomandibular dysostosis Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Craniometaphyseal dysplasia - severe type Associated morphology False kongenital dysplasi Inferred relationship Some 3
    zygo-auro-mandibulär dysostos Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Achondroplasia Associated morphology False kongenital dysplasi Inferred relationship Some 4
    Furst-Ostrums syndrom Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Brachydactyly syndrome type E Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Oculodento-osseous dysplasia - mild type Associated morphology False kongenital dysplasi Inferred relationship Some 6
    Craniometaphyseal dysplasia Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Craniometaphyseal dysplasia - mild type Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Stickler syndrome Associated morphology False kongenital dysplasi Inferred relationship Some 5
    Fronto-malar faciosynostosis Associated morphology False kongenital dysplasi Inferred relationship Some 4
    Madelung's deformity Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Antley-Bixler syndrome Associated morphology False kongenital dysplasi Inferred relationship Some 6
    svår akondroplasi med försenad utveckling och acanthosis nigricans Associated morphology False kongenital dysplasi Inferred relationship Some 1
    intermaxillopalatinal dysostos Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Internasal dysostosis Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Weill-Marchesani syndrome Associated morphology False kongenital dysplasi Inferred relationship Some 4
    Congenital onychodysplasia of index fingers (disorder) Associated morphology False kongenital dysplasi Inferred relationship Some 1
    Camptomelic dysplasia Associated morphology False kongenital dysplasi Inferred relationship Some 4
    Fronto-naso-ethmoidal dysostosis (disorder) Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Diaphyseal dysplasia Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Ehlers-Danlos syndrom, dominant typ 4 Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Ehlers-Danlos syndrom, dominant typ 4 Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Ehlers-Danlos syndrom, recessiv typ 4 Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Ehlers-Danlos syndrom, recessiv typ 4 Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Ehlers-Danlos syndrom, typ 1 Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Ehlers-Danlos syndrom, typ 1 Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Ehlers-Danlos syndrom, prokollagenproteinasresistent Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Ehlers-Danlos syndrom, prokollagenproteinasresistent Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Familial articular hypermobility syndrome (disorder) Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Familial articular hypermobility syndrome (disorder) Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Ehlers-Danlos syndrom, typ 2 Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Ehlers-Danlos syndrom, typ 2 Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Vascular Ehlers-Danlos syndrome Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Vascular Ehlers-Danlos syndrome Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False kongenital dysplasi Inferred relationship Some 4
    Ehlers-Danlos syndrome (disorder) Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Ehlers-Danlos syndrome (disorder) Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Ehlers-Danlos syndrome, dysfibronectinaemic Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Ehlers-Danlos syndrome, dysfibronectinaemic Associated morphology False kongenital dysplasi Inferred relationship Some 3
    hornhinnefragilitet, keratoglobus, blå senhinna och ledöverrörlighet Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Arthrochalasia Ehlers-Danlos syndrome (disorder) Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Arthrochalasia Ehlers-Danlos syndrome (disorder) Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Acrodysostosis Associated morphology False kongenital dysplasi Inferred relationship Some 7
    X-linked Ehlers-Danlos syndrome Associated morphology False kongenital dysplasi Inferred relationship Some 2
    X-linked Ehlers-Danlos syndrome Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Hypermobile Ehlers-Danlos syndrome (disorder) Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Hypermobile Ehlers-Danlos syndrome (disorder) Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Cutis laxa, x-linked Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Cutis laxa, x-linked Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Ehlers-Danlos syndrom av okulär typ utan hydroxilysinbrist Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Ehlers-Danlos syndrom av okulär typ utan hydroxilysinbrist Associated morphology False kongenital dysplasi Inferred relationship Some 3
    hornhinnefragilitet, keratoglobus, blå senhinna och ledöverrörlighet Associated morphology False kongenital dysplasi Inferred relationship Some 5
    Sphenoidal dysostosis Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Tarsal-carpal coalition syndrome Associated morphology False kongenital dysplasi Inferred relationship Some 1
    Vitreoretinal dysplasia Associated morphology False kongenital dysplasi Inferred relationship Some 1
    Vitreoretinal dysplasia Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Hay-Wells syndrome of ectodermal dysplasia Associated morphology False kongenital dysplasi Inferred relationship Some 5
    Spondyloenchondrodysplasia with immune dysregulation Associated morphology False kongenital dysplasi Inferred relationship Some 2
    Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Associated morphology False kongenital dysplasi Inferred relationship Some 4
    Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Hallermann-Streiff syndrome Associated morphology False kongenital dysplasi Inferred relationship Some 4
    Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Associated morphology False kongenital dysplasi Inferred relationship Some 3
    Geleophysic dysplasia Associated morphology False kongenital dysplasi Inferred relationship Some 1
    Diaphyseal dysplasia Associated morphology False kongenital dysplasi Inferred relationship Some 1
    Baller-Gerold syndrome Associated morphology False kongenital dysplasi Inferred relationship Some 1
    Oculodento-osseous dysplasia - severe type Associated morphology False kongenital dysplasi Inferred relationship Some 2

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