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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 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 anomaly false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Renal dysplasia with limb defect syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ulna fibula ray defect and brachydactyly syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Congenital hypoplasia of ulna and intellectual disability syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ulna fibula ray defect and brachydactyly syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Trichodysplasia with amelogenesis imperfecta syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Taurodontia with absent teeth and sparse hair syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Primary renal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Secondary renal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bilateral secondary renal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Bilateral secondary renal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Acrofrontofacionasal dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Acrofrontofacionasal dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Acrofrontofacionasal dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Acrocapitofemoral dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acrocraniofacial dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Acropectorovertebral dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Doughnut lesion of calvaria and bone fragility syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Campomelia Cumming type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Acrocraniofacial dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Acrofacial dysostosis Catania type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acrofacial dysostosis Catania type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Acrofacial dysostosis Kennedy Teebi type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acrofacial dysostosis Kennedy Teebi type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Acrofacial dysostosis Palagonia type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acrofacial dysostosis Palagonia type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Acrofacial dysostosis Rodriguez type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Bone dysplasia Azouz type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Brachydactyly and arterial hypertension syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Camptodactyly syndrome Guadalajara type 2 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Cerebro-facio-thoracic dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Cerebro-facio-thoracic dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Acrofacial dysostosis Rodriguez type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ankylosing vertebral hyperostosis with tylosis syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Camptodactyly and tall stature with scoliosis and hearing loss syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Cerebro-facio-thoracic dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Coxopodopatellar syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cranioosteoarthropathy (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Craniofacial conodysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Czech dysplasia metatarsal type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia with disorder of sex development syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Ehlers-Danlos syndrome with periventricular heterotopia Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Ehlers-Danlos syndrome cardiac valvular type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome cardiac valvular type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 8
    Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 9
    Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Ehlers-Danlos syndrome vascular-like type Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Eiken syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Filippi syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Alopecia, contracture, dwarfism, intellectual disability syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Angel-shaped phalangoepiphyseal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphedema syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Ehlers-Danlos syndrome musculocontractural type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Ehlers-Danlos syndrome vascular-like type Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Frank-Ter Haar syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ankylosing vertebral hyperostosis with tylosis syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Craniofacial conodysplasia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Ehlers-Danlos syndrome with periventricular heterotopia Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 8
    Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Choroidal atrophy and alopecia syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Craniofrontonasal dysplasia with Poland anomaly syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Holt-Oram syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome progeroid type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome progeroid type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Hall Riggs syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Heart defect and limb shortening syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Heart-hand syndrome type 3 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Postaxial polydactyly and intellectual disability syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dacryocystitis and osteopoikilosis syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Lymphedema hypoparathyroidism syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Dermo-odonto dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Diaphanospondylodysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Caudal regression syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Heart defect and limb shortening syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Heart-hand syndrome Slovenian type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Aplasia of fibula and ectrodactyly syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Heart-hand syndrome type 2 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Deafness, enamel hypoplasia, nail defect syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 10
    Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 9
    Chondrodysplasia, dentinogenesis imperfecta, joint laxity syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Dermatoosteolysis Kirghizian type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Hidrotic ectodermal dysplasia Halal type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Hip dysplasia Beukes type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Hypomandibular faciocranial dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Scalp, ear, nipple syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Robinow-like syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Coloboma of macula with brachydactyly type B syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Dermatoosteolysis Kirghizian type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Acrofrontofacionasal dysostosis type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Acrofrontofacionasal dysostosis type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 7

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