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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 anomalie congénitale 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 anomalie du développement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Multiple congenital exostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Short rib dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Atelosteogenesis/diastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Kniest-Stickler dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysostosis multiplex Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Furst-Ostrum syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bent bone dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    pseudochondroplasie Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Congenital exostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Symphalangism-brachydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia of kidney NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia, unspecified Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dyschondroplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Other lethal retarded ossification syndromes Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplasia, unspecified Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Other osteodysplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    [X]Other osteochondrodysplasia with defects of growth of tubular bones and spine Associated morphology False Congenital dysplasia Inferred relationship Some 1
    [X]Other specified osteochondrodysplasias Associated morphology False Congenital dysplasia Inferred relationship Some 1
    [X]Osteochondrodysplasia with defect growth of tubular bone and spine unspecified Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodystophy NEC Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Other specified osteodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplasia NOS Associated morphology False Congenital dysplasia Inferred relationship Some 1
    [EDTA] Congenital renal dysplasia with or without urinary tract malformation associated with renal failure Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta type I (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta type III (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Thanatophoric dysplasia, type 1 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Thanatophoric dysplasia, type 2 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepiphyseal dysplasia with joint laxity (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Sponastrime dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acroscyphodysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Sedaghatian type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachyolmia - Hobaek type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachyolmia - Maroteaux type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Trichorhinophalangeal dysplasia type III (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acromesomelic dysplasia Hunter-Thompson type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachydactyly syndrome type B (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Brachydactyly syndrome type C (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Precocious osteodysplasty (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Yunis-Varon dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteoplastic dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic dysplasia, type I (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic dysplasia, type II (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    dysplasie ostéodysplasique microcéphalique type Saul-Wilson Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cole-Carpenter dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Mixed sclerosing bone dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    A rare disorder characterised by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anaemia. The exact prevalence is unknown. Associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Transmitted as an autosomal recessive trait. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Diaphyseal medullary stenosis with bone malignancy (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Lethal chondrodysplasia with fragmented bone (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Greenberg dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dappled diaphyseal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Astley-Kendall dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Genochondromatosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloenchondromatosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloenchondromatosis with basal ganglia calcification (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cherubism with gingival fibromatosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Patella dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Scypho-patellar dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Cutaneous asthenia in dogs AND/OR cats Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata, Conradi-Hünermann type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    A rare genodermatosis disease with great phenotypic variation and characterised most commonly by ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Juvenile fucosidosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Adult fucosidosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    X-linked dominant chondrodysplasia punctata of Happle Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Zygo-auro-mandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Otomandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Intermandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital dysplasia Inferred relationship Some 2
    A genetically heterogeneous autosomal recessive syndrome characterised by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia. Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ectodermal dysplasia with hair-tooth-nail-sweating defect Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypohidrotic X-linked ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Roselli-Gulienetti ectodermal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Basan syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Greither type of ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Anonychia with bizarre flexural pigmentation Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Tricho-onychodental dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia with hair-tooth-nail defects (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    syndrome de Schoef-Schulz-Passage Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Odonto-onychial dysplasia with alopecia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Fried's tooth and nail syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypodontia and nail dysgenesis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    dysplasie dermodentaire Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Salamon's syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectodermal dysplasia, syndactyly and pili torti Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dwarfism, alopecia, pseudoanodontia, cutis laxa Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypohidrosis-diabetes insipidus syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ectodermal dysplasia with hair-tooth defects Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Odontotrichomelic syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Orofacial-digital syndrome III Associated morphology False Congenital dysplasia Inferred relationship Some 2

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    Reference Sets

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