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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
    Other osteodysplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Craniometaphyseal dysplasia - severe type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, dysfibronectinaemic Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Diffuse hypoplasia of right ventricle Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Endosteal hyperostoses Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypophosphataemic rickets with nephrotic-glycosuric dwarfism Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pseudo-Hurler polydystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dyschondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypohidrosis with neurolabyrinthitis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Oculodento-osseous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Tricho-dento-osseous syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteomesopycnosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Temporo-auro-mandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Naso-maxillary dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia with hair-tooth-nail defects Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Worth disease Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Geleophysic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Roselli-Gulienetti ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia with defective mineralisation Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta with normal sclerae, dominant form Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, perinatal lethal Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata, X-linked dominant type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, type 5 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysosteosclerosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mannosidosis, type II Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Frontometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia with increased bone density Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Beals auriculo-osteodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia with hair-tooth-nail-sweating defect Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dappled diaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta type IIA Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitamin D-dependent rickets type II without alopecia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hay-Wells syndrome of ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    [X]Other osteochondrodysplasia with defects of growth of tubular bones and spine Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Carpotarsal osteochondromatosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spheno-frontal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Axial osteosclerosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypoplasia of right ventricular outflow tract Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Tricho-onychodental dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, type 4 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Rolland-Debuqois syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hyperphosphatasaemia tarda Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Autosomal dominant hypophosphataemic bone disease Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Astley-Kendall dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Nievergelt's syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pseudohypoparathyroidism type I A Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Congenital exostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteosclerosis - Stanescu type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple synostosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mohr syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hypohidrotic X-linked ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Geographic retinal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cherubism with gingival fibromatosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cutaneous asthenia in dogs AND/OR cats Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta type IIB Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteoporosis with pseudoglioma Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Greenberg dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Craniodiaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia with decreased bone density Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hidrotic ectodermal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic primordial dwarfism, type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple dislocations with dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Autosomal dominant hypophosphataemic rickets Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata, Conradi-Hünermann type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypoplastic enamel-onycholysis-hypohidrosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Nail-patella syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta with blue sclerae AND normal teeth Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic primordial dwarfism, type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    X-linked dominant chondrodysplasia punctata of Happle Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ganglioside sialidase deficiency Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, procollagen proteinase resistant Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic primordial dwarfism Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Robinson nail dystrophy-deafness syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Langer mesomelic dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata, X-linked recessive type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysostosis multiplex Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Atelosteogenesis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Salla disease Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Furst-Ostrum syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Kniest-Stickler dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cerebellar cortical dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    [X]Osteochondrodysplasia with defect growth of tubular bone and spine unspecified Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hyperplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloenchondromatosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Desbuquois syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloenchondromatosis with basal ganglia calcification Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Stuve-Wiedemann dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Lethal Kniest-like syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Infantile GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Familial x-linked hypophosphataemic vitamin D refractory rickets Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Melnick-Needles syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, procollagen proteinase deficient Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Langer-Giedion syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodystophy NEC Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasias with significant membranous bone involvement Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Sphenoidal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Trichorhinophalangeal dysplasia type I Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Adult GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1

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    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set

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