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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
    42394016 Congenital dysplasia, NOS en Synonym (core metadata concept) Inactive Only initial character 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 est un(e) (attribut) Congenital anomaly false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) dysplasie false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) Congenital malformation false Inferred relationship Some
    Congenital dysplasia est un(e) (attribut) Developmental abnormality false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Familial caudal dysgenesis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Optic disc dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Frontonasal dysplasia sequence morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    syndrome de Furhmann morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Oro-facial digital syndrome type 10 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    syndrome oro-facio-digital type 5 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Oro-facial digital syndrome type 8 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Parastremmatic dwarfism (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Patent ductus arteriosus, bicuspid aortic valve, hand anomaly syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Odonto-tricho-ungual-digito-palmar syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Median cleft of upper lip, corpus callosum lipoma, cutaneous polyp syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 9
    Ackerman syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Endocrine-cerebro-osteodysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Hypotrichosis with juvenile macular degeneration syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Ectodermal dysplasia with blindness syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Osteogenesis imperfecta, retinopathy, seizures, intellectual disability syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Kozlowski spondylometaphyseal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Pili torti onychodysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Pili torti onychodysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Pili torti onychodysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    syndrome de la maladie cardiaque polyvalvulaire morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    syndrome de dysplasie osseuse terminale-défauts de pigmentation morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    syndrome de la maladie cardiaque polyvalvulaire morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Thymic, renal, anal, lung dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Thoracolaryngopelvic dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Clastothrix morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Photosensitivity with ichthyosis, brittle hair, impaired intelligence, decreased fertility and short stature syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    BIDS brittle hair-impaired intellect-decreased fertility-short stature syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Stern Lubinsky Durrie syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Clastothrix morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Trichothiodystrophy (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Grant syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Patterson Stevenson Fontaine syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Patterson Stevenson Fontaine syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Schimke immuno-osseous dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Microspherophakia with metaphyseal dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    8q13 microdeletion syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Frontonasal dysplasia with alopecia and genital anomaly syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Hypertelorism Teebi type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Microspherophakia with metaphyseal dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Craniometadiaphyseal dysplasia wormian bone type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Bowed tibia, radial anomaly, osteopenia, fracture syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Cheirospondyloenchondromatosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Craniolenticulosutural dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    8q13 microdeletion syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Atelosteogenesis type 1 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Atelosteogenesis type 3 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Omodysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Autosomal dominant omodysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Autosomal recessive omodysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Paraplegia, brachydactyly, cone-shaped epiphysis syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Carbohydrate sulfotransferase 3 related skeletal dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Genochondromatosis type 2 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    McCune Albright syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Short rib polydactyly syndrome type I (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 10
    Bone dysplasia lethal Holmgren type (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Coxoauricular syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Melhem Fahl syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    syndrome de dysplasie ectodermique-surdité neurosensorielle morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteopenia, intellectual disability, sparse hair syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 7
    Ehlers-Danlos and osteogenesis imperfecta syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos and osteogenesis imperfecta syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Skeletal dysplasia with wormian bone, multiple fractures, dentinogenesis imperfecta syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    Exostosis, anetoderma, brachydactyly type E syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Skeletal dysplasia brachydactyly syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Long thumb brachydactyly syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Joubert syndrome with Jeune asphyxiating thoracic dystrophy morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Skeletal dysplasia brachydactyly syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 6
    Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    dysplasie ectodermique tricho-odonto-onychiale morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    dysplasie ectodermique tricho-odonto-onychiale morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 5
    Dysplasia of eye morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Unilateral congenital dysplasia of lung with vascular anomalies (situation) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    dysplasie oculo-dento-osseuse morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Metaphyseal fibrous defect est un(e) (attribut) False Congenital dysplasia Inferred relationship Some
    dysplasie congénitale d'une hanche morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Regional odontodysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Shell teeth morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Baller-Gerold syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Congenital renal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Agenesis of right kidney co-occurrent with congenital dysplasia of left kidney (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Agenesis of left kidney co-occurrent with congenital dysplasia of right kidney (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Bipartite talus (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Conductive deafness, ptosis, skeletal anomalies syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Oculomaxillofacial dysostosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2

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