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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
    dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic primordial dwarfism Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic primordial dwarfism, type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteodysplastic primordial dwarfism, type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia with decreased bone density Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta type IIA presents with broad ribs with multiple fractures, continuous beaded ribs and severe under-modeling of the femur. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta type IIB presents with normal or thin ribs with some fractures, discontinuous beaded ribs and some under-modeling of the femur. The disease is either autosomal dominant or autosomal recessive depending on the gene involved. Autosomal dominant cases occur either sporadically or due to germline mosaicism. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteoporosis with pseudoglioma Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bruck syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Singleton-Merten syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Geroderma osteodysplastica Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia with defective mineralization Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysplasia with increased bone density Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysosteosclerosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteosclerosis - Stanescu type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteomesopycnosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteopathia striata with cranial sclerosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Endosteal hyperostoses Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Worth disease Associated morphology False Congenital dysplasia Inferred relationship Some 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 Some 1
    Pachydermoperiostosis - familial Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Craniometaphyseal dysplasia - severe type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Craniometaphyseal dysplasia - mild type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oculodento-osseous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oculodento-osseous dysplasia - severe type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oculodento-osseous dysplasia - mild type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Disorganised development of cartilaginous and fibrous components of the skeleton Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dyschondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteoglophonic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Fibrous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Idiopathic osteolyses Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hereditary acroosteolysis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Carpal-tarsal osteolysis with nephropathy (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Winchester syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Torg type osteolysis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Familial expansile osteolysis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Enchondromatosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Idiopathic hyperphosphatasemia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, perinatal lethal (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondylodysplastic group Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Short rib dysplasia group (with or without polydactyly) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Kniest-Stickler dysplasia group Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spondyloepiphyseal dysplasia congenita Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Chondrodysplasia punctata (stippled epiphyses) group (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bent bone dysplasia group Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Craniometadiaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Idiopathic multicentric osteolysis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pseudohypoparathyroidism and pseudopseudohypoparathyroidism type I Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Sialic storage disease Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysostosis multiplex group Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Acromesomelic dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, type IV B Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, type IV A Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Multiple epiphyseal dysplasia tarda type IIIa Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Dysostosis of bone of skull Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Melnick-Needles syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Lenz-Majewski hyperostosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypoplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Congenital ovarian dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    chondrodysplasie ponctuée congénitale Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Achondrogenesis, type IB Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Vascular Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    A rare, rhizo-mesomelic dysplasia characterised by distinct facial features (flat midface, flat small nose, anteverted nares, low set ears, protuberant eyes, and small mouth with long upper lip), markedly short limbs with relatively normal hands and feet, short ribs with broad metaphyses and small bell-shaped thorax with protuberant abdomen. Vertebral bodies are flat, creating a distinctive pinched appearance in lateral radiographic views. Cleft palate, micrognathia, bifid tongue and brachyclinodactyly with some soft tissue syndactyly have been reported in few patients. It is mostly a neonatally lethal condition. Affected individuals who survive the neonatal period present with severe global developmental delay, severe skeletal dysplasia, high myopia and mild to moderate hearing loss. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Sclerosteosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Leri-Weill dyschondrosteosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Trichorhinophalangeal syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Juvenile GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    syndrome d'Ehlers-Danlos type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 1
    A rare hereditary patellar dysostosis characterised by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metatropic dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia punctata, Conradi-Hünermann type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Achondrogenesis Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Jansen type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Infantile cortical hyperostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Lymphopenic agammaglobulinemia - short-limbed dwarfism syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Bone island Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Ectopic bone tissue, congenital Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pyle metaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Uhl's disease Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Geleophysic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal chondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Weill-Marchesani syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Schmid type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Thanatophoric dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Hypermobile Ehlers-Danlos syndrome (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 1
    Greig cephalopolysyndactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Nievergelt's syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Sialic acid storage disease, severe infantile type Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Camurati-Engelmann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterised by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Osteogenesis imperfecta with blue sclerae Associated morphology False Congenital dysplasia Inferred relationship Some 1
    A lysosomal storage disease with characteristics of coarse facial features, macular cherry red spot, and dysostosis multiplex. Clinical presentation can be heterogeneous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Polyostotic fibrous dysplasia of bone Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Craniometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1

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