FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.7  |  FHIR Version n/a  User: [n/a]

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
    Short rib dysplasia group (with or without polydactyly) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Kniest-Stickler dysplasia group morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Spondyloepiphyseal dysplasia congenita morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Bent bone dysplasia group morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Craniometadiaphyseal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Idiopathic multicentric osteolysis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Pseudohypoparathyroidism and pseudopseudohypoparathyroidism type I morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Sialic storage disease morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Dysostosis multiplex group morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Acromesomelic dysplasia syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, type IV B morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, type IV A morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia tarda type IIIa morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Dysostosis of bone of skull morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Melnick-Needles syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Lenz-Majewski hyperostosis syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Hypoplastic chondrodystrophy morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Congenital ovarian dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata congenita morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Achondrogenesis, type IB morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, type 4 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Fibrochondrogenesis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Sclerosteosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Leri-Weill dyschondrosteosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Trichorhinophalangeal syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Juvenile GM1 gangliosidosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, type 2 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Nail-patella syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Metatropic dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia punctata, Conradi-Hünermann type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 4
    achondrogenèse (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    chondrodysplasie métaphysaire type Jansen (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Infantile cortical hyperostosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, hydroxylysine-deficient morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Bone island morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ectopic bone tissue, congenital morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Short rib-polydactyly syndrome, non-Majewski type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Pyle metaphyseal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Uhl's disease morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    dysplasie géléophysique morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal chondrodysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Weill-Marchesani syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    chondrodysplasie métaphysaire type Schmid (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    dysplasie thanatophore (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, type 3 morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    syndrome de céphalopolysyndactylie de Greig (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Nievergelt's syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Sialic acid storage disease, severe infantile type morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Diaphyseal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta with blue sclerae morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Combined deficiency of sialidase AND beta galactosidase morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Polyostotic fibrous dysplasia of bone morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    dysplasie cranio-métaphysaire (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Langer mesomelic dysplasia syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia congenita morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Langer-Giedion syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Leri's pleonosteosis syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, procollagen proteinase resistant (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Pseudohypoparathyroidism type II morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    syndrome oto-palato-digital type 2 (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    achondrogenèse type 1A (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Atelosteogenesis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    mélorhéostose (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Feline osteogenesis imperfecta morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    carpocyphose morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    syndrome de Maffucci (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteochondrodysplasia with osteopetrosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Beals auriculo-osteodysplasia syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, type 8 (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    dysplasie spondylo-épiphysaire tardive (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Cherubism (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    dysplasie de Kniest (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    syndrome oto-palato-digital type 1 (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta with progressive deformity AND normal sclerae (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    aspartylglucosaminurie (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    pseudohypoparathyroïdie type 1B (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Juvenile fucosidosis (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    chondrodysplasie ponctuée rhizomélique morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Mannosidosis, type II (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Diastrophic dysplasia (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    pseudohypoparathyroïdie type 1A (trouble) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Menkes kinky-hair syndrome (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Cutis laxa, x-linked (disorder) morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    dysplasie épiphysaire multiple morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    hyperphosphatasemia tarda morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Dermatofibrosis lenticularis disseminata morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 3
    Infantile fucosidosis morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Mannosidosis, type I morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Chondroectodermal dysplasia morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2
    Multiple synostosis syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    dysplasie fronto-métaphysaire morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Antley-Bixler syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 1
    Hajdu-Cheney syndrome morphologie associée (attribut) False Congenital dysplasia Inferred relationship Some 2

    Start Previous Page 5 of 21 Next End

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

    Back to Start