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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
    Acrofrontofacionasal dysostosis type 2 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 7
    Limb mammary syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 6
    Lipodystrophy, intellectual disability, deafness syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Deafness, onychodystrophy, osteodystrophy, intellectual disability syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 7
    Acrofrontofacionasal dysostosis type 2 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 6
    Joubert syndrome with orofaciodigital defect Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 7
    Joubert syndrome with orofaciodigital defect Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 6
    Multiple epiphyseal dysplasia type 4 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Multiple epiphyseal dysplasia type 1 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Multiple epiphyseal dysplasia type 5 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Blepharocheilodontic syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Multiple epiphyseal dysplasia Al-Gazali type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Multiple epiphyseal dysplasia Beighton type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Hip dysplasia Beukes type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Epiphyseal dysplasia, microcephalus, nystagmus syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Karsch Neugebauer syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 7
    Intellectual disability, balding, patella luxation, acromicria syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 7
    Johnson neuroectodermal syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Oculootoradial syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Oculoosteocutaneous syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Book syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Ballard syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Catel Manzke syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Ballard syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Autosomal recessive popliteal pterygium syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Oculotrichodysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Skeletal dysplasia with intellectual disability syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Sacral dysgenesis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Lumbosacral agenesis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Fuhrmann syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Oro-facial digital syndrome type 10 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Oro-facial digital syndrome type 5 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Oro-facial digital syndrome type 8 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Ossification anomaly with psychomotor developmental delay syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 8
    Osteocraniostenosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Osteoporosis and oculocutaneous hypopigmentation syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 6
    Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Dyschondrosteosis and nephritis syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Dysspondyloenchondromatosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Familial caudal dysgenesis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Optic disc dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Frontonasal dysplasia sequence Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Fuhrmann syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Oro-facial digital syndrome type 10 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 7
    Oro-facial digital syndrome type 5 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 7
    Oro-facial digital syndrome type 8 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 7
    Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 6
    Parastremmatic dwarfism Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 6
    Odonto-tricho-ungual-digito-palmar syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 9
    Ackerman syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Endocrine-cerebro-osteodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 6
    Preaxial deficiency, postaxial polydactyly, hypospadias syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Hypotrichosis with juvenile macular degeneration syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Ectodermal dysplasia with blindness syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 6
    Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 6
    Kozlowski spondylometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Pili torti onychodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Pili torti onychodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 7
    Pili torti onychodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Polyvalvular heart disease syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Terminal osseous dysplasia and pigmentary defect syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Polyvalvular heart disease syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 7
    Microcephalic osteodysplastic dysplasia Saul Wilson type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Thymic, renal, anal, lung dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Thoracolaryngopelvic dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Clastothrix Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Brittle hair-impaired intellect-decreased fertility-short stature syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Stern Lubinsky Durrie syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Clastothrix Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Trichothiodystrophy Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Grant syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Patterson Stevenson Fontaine syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Patterson Stevenson Fontaine syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Schimke immuno-osseous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Microspherophakia with metaphyseal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    8q13 microdeletion syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Frontonasal dysplasia with alopecia and genital anomaly syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 6
    Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Hypertelorism Teebi type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Microspherophakia with metaphyseal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    Craniometadiaphyseal dysplasia wormian bone type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 3
    Bowed tibia, radial anomaly, osteopenia, fracture syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Cheirospondyloenchondromatosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Craniolenticulosutural dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 4
    8q13 microdeletion syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 5
    Atelosteogenesis type 1 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Atelosteogenesis type 3 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 2
    Omodysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Autosomal dominant omodysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Autosomal recessive omodysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 1
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier 7

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