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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
    Madelung's deformity Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Antley-Bixler syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Intermaxillo-palatine dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Internasal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Weill-Marchesani syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Congenital onychodysplasia of index fingers Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Camptomelic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Fronto-naso-ethmoidal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Diaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, dominant type 4 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, dominant type 4 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome, recessive type 4 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, recessive type 4 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome, type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome, procollagen proteinase resistant Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, procollagen proteinase resistant Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome, familial joint laxity type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, familial joint laxity type Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome, type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome, type 4 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, type 4 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome, type 8 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome, type 8 Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome, dysfibronectinaemic Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, dysfibronectinaemic Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome, procollagen proteinase deficient Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, procollagen proteinase deficient Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Acrodysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Ehlers-Danlos syndrome, type 5 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, type 5 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome, type 3 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, type 3 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Cutis laxa, x-linked Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Cutis laxa, x-linked Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, non hydroxylysine deficient ocular type Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Sphenoidal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Tarsal-carpal coalition syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitreoretinal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitreoretinal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hay-Wells syndrome of ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Spondyloenchondrodysplasia with immune dysregulation Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Anhidrotic ectodermal dysplasia with immune deficiency Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Congenital acetabular dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Hallermann-Streiff syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Geleophysic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Diaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Baller-Gerold syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oculodento-osseous dysplasia - severe type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Robinson nail dystrophy-deafness syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Ectodermal dysplasia with tooth-nail-sweating defect Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Dento-oculocutaneous syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Berlin syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Mohr syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Anonychia with bizarre flexural pigmentation Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Basan syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Johanson-Blizzard syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Odontotrichomelic syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Hypohidrotic ectodermal dysplasia, hypothyroidism, ciliary dyskinesia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Ectodermal dysplasia with nail defect Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Kirman syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ectodermal dysplasia with sweating defect Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Roselli-Gulienetti ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Pachyonychia congenita syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Ectodermal dysplasia with tooth-nail defects Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Flynn-Aird syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ectodermal dysplasia with tooth-sweating defect Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Laryngo-onychocutaneous syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Anhidrotic ectodermal dysplasia with immune deficiency Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cranioectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Congenital ectodermal dysplasia of face Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Greither type of ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ectodermal dysplasia with hair-tooth-nail defects Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Fried's tooth and nail syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Pachyonychia congenita type III of Schafer-Brunauer Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Senter syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ectodermal dysplasia, syndactyly and pili torti Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Orofacial-digital syndrome IV Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Trichodental syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Dwarfism, alopecia, pseudoanodontia, cutis laxa Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Marshall syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Moynahan's syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Odonto-onychial dysplasia with alopecia Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Olive dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Curry-Hall syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Dermodental dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Odontomicronychial ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Triphalangeal thumbs with onychodystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 4

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    Reference Sets

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