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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
    Epiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dysplasia with increased bone density Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acromesomelic dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Madelung's deformity (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Chondrodysplasia punctata, X-linked recessive type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    A rare, genetic primary bone dysplasia of the spondylo-epi-metaphyseal dysplasia (SEMD) group characterized by progressive short-trunked dwarfism, protruding sternum, microcephaly, intellectual disability and pathognomonic radiological findings (generalized platyspondyly with double-humped end plates, irregularly ossified femoral heads, a hypoplastic odontoid, and a lace-like appearance of iliac crests). Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteodysplastic dysplasia, type II (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Familial x-linked hypophosphatemic vitamin D refractory rickets Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Torg type osteolysis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Adult GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Chondrodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Enchondromatosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloenchondromatosis with basal ganglia calcification (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Lethal retarded ossification syndromes Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Grebe syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Frontometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteopoikilosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids. Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Thanatophoric dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Thanatophoric dysplasia, type 2 (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Rolland-Debuqois syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hyperphosphatasemia tarda Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Spondylodysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Bruck syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Naso-maxillary dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Sclerosteosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteoporosis with pseudoglioma Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance. Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Achondrogenesis, type IB Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple synostosis syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Juvenile GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    dysplasie ostéodysplasique microcéphalique type Saul-Wilson Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Osteomesopycnosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acromesomelic dysplasia Hunter-Thompson type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Cranioectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dysplasia with decreased bone density Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal chondrodysplasia, Schmid type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Kniest-Stickler dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteochondrodysplasia with osteopetrosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Spondyloepiphyseal dysplasia congenita Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteodysplastic dysplasia, type I (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Greig cephalopolysyndactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta, perinatal lethal Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Endosteal hyperostoses Associated morphology False Congenital dysplasia Inferred relationship Some 2
    I-cell disease Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple dislocations with dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acromicric dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Lethal chondrodysplasia with fragmented bone (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Maxillary dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Metaphyseal chondrodysplasia, McKusick type with associated immunodeficiency Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Temporo-aural dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Congenital skeletal dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    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 2
    Disorganised development of cartilaginous and fibrous components of the skeleton Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dysplasia with defective mineralization Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Idiopathic osteolyses Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteosclerosis - Stanescu type Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Intermandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    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 2
    Autosomal dominant hypophosphatemic rickets Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Achondrogenesis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metaphyseal chondrodysplasia, McKusick type Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Spondyloepimetaphyseal disorder Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple epiphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pseudohypoparathyroidism type I A Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Greenberg dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Kyphomelic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mesomelic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Cole-Carpenter dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hyperphosphatasemia with bone disease Associated morphology False Congenital dysplasia Inferred relationship Some 3
    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 2
    Spondyloenchondromatosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Winchester syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Maffucci syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    X-linked dominant chondrodysplasia punctata of Happle Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Autosomal dominant hypophosphataemic bone disease Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Multiple congenital exostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Infantile fucosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Lethal Kniest-like syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Salla disease Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Astley-Kendall dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Juvenile fucosidosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Pseudo-Hurler polydystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Oculodento-osseous dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Melnick-Needles syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Progressive pseudorheumatoid dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Wolcott-Rallison dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Type IV short rib polydactyly syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities. Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Mannosidosis, type I Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Frontal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    A very rare lysosomal storage disease with characteristics of developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta type III (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metatropic dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Premaxillo-maxillary dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Langer mesomelic dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteogenesis imperfecta, dominant perinatal lethal Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Osteoplastic dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2

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