FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  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
    755582019 Congenital dysplasia (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
    42393010 Congenital dysplasia en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    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 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 Is a anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital dysplasia Is a Dysplasia false Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital dysplasia Is a Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
    Congenital dysplasia Is a anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept)
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Spondyloepimetaphysäre Dysplasie mit Überstreckbarkeit der Gelenke Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Osteodysplastic primordial dwarfism Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Osteodysplastic primordial dwarfism, type 1 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Osteodysplastic primordial dwarfism, type 2 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Dysplasia with decreased bone density Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Osteogenesis imperfecta type IIA Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Osteogenesis imperfecta type IIB Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Osteoporosis with pseudoglioma Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Bruck syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Singleton-Merten syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Geroderma osteodysplastica Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Dysplasia with defective mineralization Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Dysplasia with increased bone density Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Dysosteosclerosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Osteosclerosis - Stanescu type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Axial osteosclerosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Osteomesopycnosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Osteopathia striata with cranial sclerosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Endosteal hyperostoses (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Worth disease Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Syndrome with characteristics of congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy and dysarthria. It is appears to be transmitted as an autosomal recessive trait. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Pachydermoperiostosis - familial Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Craniometaphyseal dysplasia - severe type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Craniometaphyseal dysplasia - mild type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Oculodento-osseous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Oculodento-osseous dysplasia - severe type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Oculodento-osseous dysplasia - mild type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Disorganised development of cartilaginous and fibrous components of the skeleton Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Dyschondroplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Osteoglophonic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Fibrous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Idiopathic osteolyses Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hereditary acroosteolysis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Carpal-tarsal osteolysis with nephropathy Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Winchester syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Torg type osteolysis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Familial expansile osteolysis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Enchondromatosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Idiopathic hyperphosphatasemia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Osteogenesis imperfecta, perinatal lethal (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Spondylodysplastic group (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Short rib dysplasia group (with or without polydactyly) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Kniest-Stickler dysplasia group Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Spondyloepiphyseal dysplasia congenita group (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Chondrodysplasia punctata Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Bent bone dysplasia group Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Craniometadiaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Idiopathic multicentric osteolysis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Pseudohypoparathyroidism and pseudopseudohypoparathyroidism type I Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Sialic storage disease Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Dysostosis multiplex group Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Acromesomelic dysplasia group (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Osteogenesis imperfecta, type IV B Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Osteogenesis imperfecta, type IV A (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Multiple epiphyseal dysplasia tarda type IIIa Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Dysostosis of bone of skull Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Melnick-Needles syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Lenz-Majewski hyperostosis syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Hypoplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Congenital ovarian dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    chondrodysplasie ponctuée congénitale Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Achondrogenesis, type IB Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Ehlers-Danlos syndrome, type 4 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Fibrochondrogenesis is a rare neonatally lethal rhizomelic chondrodysplasia. The face is distinctive with characteristics of protuberant eyes, flat midface, flat small nose with anteverted nares and a small mouth with long upper lip. Cleft palate, micrognathia and bifid tongue can occur. The limbs show marked shortness of all segments with relatively normal hands and feet. No internal anomalies other than omphalocele have been reported. Transmission is probably autosomal recessive. Recurrence in a consanguineous family (affecting both sexes) and concordance of affected male twins has been reported. Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Sclerosteosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Leri-Weill dyschondrosteosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Trichorhinophalangeal syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Juvenile GM1 gangliosidosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    syndrome d'Ehlers-Danlos type 2 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Nail-patella syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Metatropic dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Chondrodysplasia punctata, Conradi-Hünermann type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 4
    Achondrogenesis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Metaphyseal chondrodysplasia, Jansen type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Infantile cortical hyperostosis Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Ehlers-Danlos syndrome, hydroxylysine-deficient (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Bone island Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ectopic bone tissue, congenital Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Pyle metaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Uhl's disease Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Geleophysic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 2
    Metaphyseal chondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Weill-Marchesani syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Metaphyseal chondrodysplasia, Schmid type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Thanatophoric dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Ehlers-Danlos syndrome, type 3 Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Greig cephalopolysyndactyly syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Nievergelt's syndrome Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Sialic acid storage disease, severe infantile type Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Diaphyseal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Osteogenesis imperfecta with blue sclerae Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Combined deficiency of sialidase AND beta galactosidase Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Polyostotic fibrous dysplasia of bone Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1
    Craniometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Existential restriction modifier (core metadata concept) 1

    Start Page 2 of 21 Next End

    Reference Sets

    Concept inactivation indicator attribute value reference set (foundation metadata concept)

    SAME AS association reference set (foundation metadata concept)

    Back to Start