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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
    Coxopodopatellar syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cranio-osteoarthropathy Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Craniofacial conodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Czech dysplasia metatarsal type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia with disorder of sex development syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    EEM syndrome 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 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome cardiac valvular type Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology False Congenital dysplasia Inferred relationship Some 8
    Ehlers-Danlos syndrome kyphoscoliotic and deafness type Associated morphology False Congenital dysplasia Inferred relationship Some 9
    Ehlers-Danlos syndrome musculocontractural type Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Ehlers-Danlos syndrome musculocontractural type 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 Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Filippi syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Fountain syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Alopecia, contracture, dwarfism, intellectual disability syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Angel-shaped phalangoepiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Ehlers-Danlos syndrome musculocontractural type 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 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ankylosing vertebral hyperostosis with tylosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Craniofacial conodysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Ehlers-Danlos syndrome with periventricular heterotopia Associated morphology False Congenital dysplasia Inferred relationship Some 7
    CHIME syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 8
    Contracture with ectodermal dysplasia and orofacial cleft syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Choroidal atrophy and alopecia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Craniofrontonasal dysplasia with Poland anomaly syndrome 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 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome progeroid type Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Hall Riggs syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Heart defect and limb shortening syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Heart-hand syndrome type 3 Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Oliver syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dacryocystitis and osteopoikilosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Dahlberg Borer Newcomer syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Dermo-odonto dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Diaphanospondylodysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Caudal dysplasia sequence Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Heart defect and limb shortening syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Heart-hand syndrome Slovenian type Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Fibular aplasia and ectrodactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Heart-hand syndrome type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Deafness, enamel hypoplasia, nail defect syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 10
    Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 9
    Odontochondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Dermatoosteolysis Kirghizian type Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Hidrotic ectodermal dysplasia Halal type Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Hip dysplasia Beukes type Associated morphology False Congenital dysplasia Inferred relationship Some 4
    GAPO syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Hypomandibular faciocranial dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Scalp, ear, nipple syndrome 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 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Dermatoosteolysis Kirghizian type 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
    Limb mammary syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Lipodystrophy, intellectual disability, deafness syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    DOORS syndrome 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 Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Joubert syndrome with orofaciodigital defect Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Multiple epiphyseal dysplasia type 4 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia type 5 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Blepharocheilodontic syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia Al-Gazali type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia Beighton type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hip dysplasia Beukes type Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Lowry Wood syndrome 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 Associated morphology False Congenital dysplasia Inferred relationship Some 7
    Johnson neuroectodermal syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    IVIC syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Oculoosteocutaneous syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Book syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ballard syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Catel Manzke syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ballard syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Bartsocas Papas syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Oculotrichodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Skeletal dysplasia with intellectual disability syndrome 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 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Orofaciodigital syndrome type 10 Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Orofaciodigital syndrome type 5 Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Orofaciodigital syndrome type 8 Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Ossification anomaly with psychomotor developmental delay syndrome 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 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteoporosis and oculocutaneous hypopigmentation syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Osteosclerosis, 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 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Familial caudal dysgenesis Associated morphology False Congenital dysplasia Inferred relationship Some 3

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    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set

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