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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital dysplasia est un(e) (attribut) Congenital anomaly false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) dysplasie false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) Congenital malformation false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) Developmental abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Other osteodysplasia NOS morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Craniometaphyseal dysplasia - severe type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, dysfibronectinemic morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Diffuse hypoplasia of right ventricle morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Endosteal hyperostoses morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Hypophosphataemic rickets with nephrotic-glycosuric dwarfism morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Pseudo-Hurler polydystrophy morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Dyschondroplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Hypohidrosis with neurolabyrinthitis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    dysplasie oculo-dento-osseuse morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    syndrome tricho-dento-osseux (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteomesopycnosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Temporo-auro-mandibular dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Naso-maxillary dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia with hair-tooth-nail defects morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Worth disease morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    dysplasie géléophysique morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Roselli-Gulienetti ectodermal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Dysplasia with defective mineralization morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta with normal sclerae, dominant form morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, perinatal lethal morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata, X-linked dominant type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, type 5 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Dysosteosclerosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Mannosidosis, type II (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    dysplasie fronto-métaphysaire morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Dysplasia with increased bone density morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Beals auriculo-osteodysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia with hair-tooth-nail-sweating defect morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, type 2 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Dappled diaphyseal dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta type IIA morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Vitamin D-dependent rickets type II without alopecia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Hay-Wells syndrome of ectodermal dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    [X]Other osteochondrodysplasia with defects of growth of tubular bones and spine morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Carpotarsal osteochondromatosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Spheno-frontal dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Axial osteosclerosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Hypoplasia of right ventricular outflow tract morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Tricho-onychodental dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, type 4 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Rolland-Debuqois syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    hyperphosphatasemia tarda morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Autosomal dominant hypophosphataemic bone disease morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    dysplasie type Astley-Kendall morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Nievergelt's syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    pseudohypoparathyroïdie type 1A (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Congenital exostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteosclerosis - Stanescu type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Multiple synostosis syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Mohr syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Hypohidrotic X-linked ectodermal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Geographic retinal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Cherubism with gingival fibromatosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Cutaneous asthenia in dogs AND/OR cats (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta type IIB morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteoporosis with pseudoglioma morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Greenberg dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Craniodiaphyseal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Dysplasia with decreased bone density morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Hidrotic ectodermal dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic primordial dwarfism, type 1 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Multiple dislocations with dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    rachitisme hypophosphatémique autosomique dominant morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata, Conradi-Hünermann type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Nail-patella syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta with blue sclerae AND normal teeth morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic primordial dwarfism, type 2 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    X-linked dominant chondrodysplasia punctata of Happle (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ganglioside sialidase deficiency morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, procollagen proteinase resistant (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic primordial dwarfism morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    syndrome de Robinson avec dystrophie unguéale et surdité morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Langer mesomelic dysplasia syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata, X-linked recessive type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Dysostosis multiplex morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Atelosteogenesis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Salla disease morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Furst-Ostrum syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Kniest-Stickler dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Cerebellar cortical dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    [X]Osteochondrodysplasia with defect growth of tubular bone and spine unspecified morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Hyperplastic chondrodystrophy morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Spondyloenchondromatosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Desbuquois syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Spondyloenchondromatosis with basal ganglia calcification (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Stuve-Wiedemann dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Lethal Kniest-like syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Infantile GM1 gangliosidosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Familial x-linked hypophosphatemic vitamin D refractory rickets morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Melnick-Needles syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Langer-Giedion syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Chondrodystophy NEC morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Dysplasias with significant membranous bone involvement morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Sphenoidal dysostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Trichorhinophalangeal dysplasia type I morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Adult GM1 gangliosidosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1

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