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

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    Reference Sets

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    SAME AS association reference set (foundation metadata concept)

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