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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
    Familial caudal dysgenesis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Optic disc dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Frontonasal dysplasia sequence Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Fuhrmann syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Orofaciodigital syndrome type 10 Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Orofaciodigital syndrome type 5 Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Orofaciodigital syndrome type 8 Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Pancreatic insufficiency, dyserythropoietic anaemia, calvarial hyperostosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Parastremmatic dwarfism Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    GAPO syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Odonto-tricho-ungual-digito-palmar syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Pai syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 9
    Ackerman syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Endocrine-cerebro-osteodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Guttmacher syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Hypotrichosis with juvenile macular degeneration syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Ectodermal dysplasia with blindness syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Kozlowski spondylometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pili torti onychodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Pili torti onychodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Pili torti onychodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Polyvalvular heart disease syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Terminal osseous dysplasia and pigmentary defect syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Polyvalvular heart disease syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Microcephalic osteodysplastic dysplasia Saul Wilson type Associated morphology False Congenital dysplasia Inferred relationship Some 5
    PIBIDS syndrome, photosensitivity with IBIDS Associated morphology False Congenital dysplasia Inferred relationship Some 2
    BIDS syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Thymic, renal, anal, lung dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Thoracolaryngopelvic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Clastothrix Associated morphology False Congenital dysplasia Inferred relationship Some 1
    PIBIDS syndrome, photosensitivity with IBIDS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    BIDS syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Stern Lubinsky Durrie syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Clastothrix Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Trichothiodystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Grant syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    RHYNS syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Patterson Stevenson Fontaine syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Patterson Stevenson Fontaine syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Schimke immuno-osseous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Microspherophakia with metaphyseal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    8q13 microdeletion syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Frontonasal dysplasia with alopecia and genital anomaly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hypertelorism Teebi type Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Microspherophakia with metaphyseal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Craniometadiaphyseal dysplasia wormian bone type Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Bowed tibia, radial anomaly, osteopenia, fracture syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Cheirospondyloenchondromatosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Craniolenticulosutural dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 4
    8q13 microdeletion syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Atelosteogenesis type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Atelosteogenesis type 3 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Omodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Autosomal dominant omodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Autosomal recessive omodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 7
    CHST3-related skeletal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Microcephalic osteodysplastic primordial dwarfism types I and III Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Genochondromatosis type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    McCune Albright syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Short rib polydactyly syndrome Saldino Noonan type Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Splenogonadal fusion, limb defect, micrognathia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 10
    Bone dysplasia lethal Holmgren type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Coxoauricular syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Melhem Fahl syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia and sensorineural deafness syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Lambert syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteopenia, intellectual disability, sparse hair syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Epilepsy, microcephaly, skeletal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Ehlers-Danlos and osteogenesis imperfecta syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos and osteogenesis imperfecta syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Exostosis, anetoderma, brachydactyly type E syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Mononen Karnes Senac syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Long thumb brachydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Joubert syndrome with Jeune asphyxiating thoracic dystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Mononen Karnes Senac syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Ectodermal dysplasia trichoodontoonychial type Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ectodermal dysplasia trichoodontoonychial type Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Dysplasia of eye Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Unilateral congenital dysplasia of lung with vascular anomalies Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oculodento-osseous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Metaphyseal fibrous defect Is a False Congenital dysplasia Inferred relationship Some
    Developmental hip dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Regional odontodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Shell teeth Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Baller-Gerold syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Congenital renal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Agenesis of right kidney co-occurrent with congenital dysplasia of left kidney Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Agenesis of left kidney co-occurrent with congenital dysplasia of right kidney Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Bipartite talus Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Conductive deafness, ptosis, skeletal anomalies syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Oculomaxillofacial dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2

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