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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
    Greenberg dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Craniodiaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Dysplasia with decreased bone density Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Hidrotic ectodermal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteodysplastic primordial dwarfism, type 1 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Multiple dislocations with dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Autosomal dominant hypophosphatemic rickets Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Chondrodysplasia punctata, Conradi-Hünermann type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Hypoplastic enamel-onycholysis-hypohidrosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Nail-patella syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteogenesis imperfecta with blue sclerae AND normal teeth Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteodysplastic primordial dwarfism, type 2 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    X-linked dominant chondrodysplasia punctata of Happle Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ganglioside sialidase deficiency Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ehlers-Danlos syndrome, procollagen proteinase resistant Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteodysplastic primordial dwarfism Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Robinson nail dystrophy-deafness syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Langer mesomelic dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Chondrodysplasia punctata, X-linked recessive type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Dysostosis multiplex Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Atelosteogenesis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Salla disease Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Furst-Ostrum syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Kniest-Stickler dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Cerebellar cortical dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    [X]Osteochondrodysplasia with defect growth of tubular bone and spine unspecified Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Hyperplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Spondyloenchondromatosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Desbuquois syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Spondyloenchondromatosis with basal ganglia calcification Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Stuve-Wiedemann dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Lethal Kniest-like syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Infantile GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Familial x-linked hypophosphatemic vitamin D refractory rickets Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Melnick-Needles syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ehlers-Danlos syndrome, procollagen proteinase deficient Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Langer-Giedion syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Chondrodystophy NEC Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Dysplasias with significant membranous bone involvement Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Sphenoidal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Trichorhinophalangeal dysplasia type I Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Adult GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Lethal chondrodysplasia with fragmented bone Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Enchondromatosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Cranioectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Pseudochondroplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Cutis laxa, x-linked Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Congenital ovarian dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Short rib dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Polyostotic fibrous dysplasia of bone Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Spondylodysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Fronto-malar faciosynostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Atelosteogenesis/diastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Metaphyseal anadysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Metaphyseal chondrodysplasia, Jansen type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Saldino-Mainzer dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Genochondromatosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Hyperphosphatasia-osteoectasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ectodermal dysplasia with sweating defect Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Defects of the tubular (and flat) bones and/or axial skeleton Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Progressive pseudorheumatoid dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Spondylometaphyseal dysplasia - Sutcliffe type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Metaphyseal chondrodysplasia, Spahr type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Brachyolmia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Acromicric dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Bent bone dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Kyphomelic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Singleton-Merten syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteopathia striata with cranial sclerosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Frontal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Symphalangism-brachydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Fibrochondrogenesis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Metachondromatosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Multiple epiphyseal dysplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Omodysplasia II Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Cherubism Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Kniest dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Oto-palato-digital syndrome, type I Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Ehlers-Danlos syndrome, type 1 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Short rib-polydactyly syndrome, Majewski type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Odonto-onycho-dermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Achondrogenesis, type IA Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Diaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Curry-Hall syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Pyle metaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteogenesis imperfecta, type IV B Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Acroscyphodysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Metaphyseal chondrodysplasia, Sedaghatian type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteoplastic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Craniometaphyseal dysplasia - mild type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Bruck syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Weill-Marchesani syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Multiple epiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Schneckenbecken dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Orofacial-digital syndrome IV Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Chondrodysplasia punctata Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Thanatophoric dysplasia, type 1 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Geroderma osteodysplastica Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1

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