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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
    Saldino-Mainzer dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Infantile GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Metachondromatosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Dysplasias with significant membranous bone involvement Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Carpal-tarsal osteolysis with nephropathy Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Juvenile idiopathic generalized osteoporosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Diastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Kniest-Stickler dysplasia group Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Scypho-patellar dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Rhizomelic chondrodysplasia punctata syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Pseudodiastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Congenital dysplasia of patella Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Dolichospondylic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Spheno-frontal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Dysostosis of bone of skull Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Acromicric dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Otomandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Achondroplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Brachydactyly syndrome type B Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Cleidocranial dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 6
    Baller-Gerold syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Brachydactyly syndrome type C Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Short rib-polydactyly syndrome, Majewski type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Shwachman syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Fronto-frontal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Oculodento-osseous dysplasia - severe type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 6
    Hypoplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Leri-Weill dyschondrosteosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Hyperplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Otomandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Craniometaphyseal dysplasia - severe type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Zygo-auro-mandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Achondroplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Furst-Ostrum syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Brachydactyly syndrome type E Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Oculodento-osseous dysplasia - mild type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 6
    Craniometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Craniometaphyseal dysplasia - mild type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Stickler syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Fronto-malar faciosynostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Madelung's deformity Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Antley-Bixler syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 6
    Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Intermaxillo-palatine dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Internasal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Weill-Marchesani syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Congenital onychodysplasia of index fingers Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Camptomelic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Fronto-naso-ethmoidal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Diaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome, dominant type 4 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome, dominant type 4 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Ehlers-Danlos syndrome, recessive type 4 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome, recessive type 4 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Ehlers-Danlos syndrome, type 1 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome, type 1 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Ehlers-Danlos syndrome, procollagen proteinase resistant Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome, procollagen proteinase resistant Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Ehlers-Danlos syndrome, familial joint laxity type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome, familial joint laxity type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Ehlers-Danlos syndrome, type 2 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome, type 2 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Ehlers-Danlos syndrome, type 4 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome, type 4 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Ehlers-Danlos syndrome, type 8 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Ehlers-Danlos syndrome, type 8 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Ehlers-Danlos syndrome, dysfibronectinemic Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome, dysfibronectinemic Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Ehlers-Danlos syndrome, procollagen proteinase deficient Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome, procollagen proteinase deficient Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Acrodysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 7
    Ehlers-Danlos syndrome, type 5 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 3
    Hypermobile Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Hypermobile Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Cutis laxa, x-linked Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Cutis laxa, x-linked Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Sphenoidal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Tarsal-carpal coalition syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Vitreoretinal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Vitreoretinal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Hay-Wells syndrome of ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Spondyloenchondrodysplasia with immune dysregulation Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Anhidrotic ectodermal dysplasia with immune deficiency Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Hallermann-Streiff syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Geleophysic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Diaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Baller-Gerold syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Oculodento-osseous dysplasia - severe type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2

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