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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
    4120811000005110 kongenit dysplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    kongenit dysplasi Is a kongenit anomali false Inferred relationship Some
    kongenit dysplasi Is a Dysplasia false Inferred relationship Some
    kongenit dysplasi Is a Kongenit malformation false Inferred relationship Some
    kongenit dysplasi Is a dysgenese false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Brachyolmia - Maroteaux type (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Fucosidosis is an extremely rare lysosomal storage disorder with characteristics of a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis. Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Spondyloepiphyseal dysplasia with joint laxity (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    præmaksillomaksillær dystostose Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteopoikilosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Thanatophoric dysplasia, type 2 (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Spondylodysplasia, San Diego type Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Type IV short rib polydactyly syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Infantile fucosidosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Trichorhinophalangeal dysplasia type III (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Leri-Weill dyschondrosteosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Opsismodysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Pachyonychia congenita syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Spondylodysplasia, Torrance type Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Fronto-frontal dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Otospondylomegaepiphyseal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Madelung's deformity Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Larsen syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Spondylodysplasia, Luton type (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Boomerang dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Pseudodiastrophic dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Type III short rib polydactyly syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Acromesomelic dysplasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Adult fucosidosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Brakyolmi – Hobæk-type Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Achondrogenesis, type II Associated morphology False kongenit dysplasi Inferred relationship Some 1
    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 kongenit dysplasi Inferred relationship Some 1
    Vitamin D-dependent rickets, type 2 Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Ectrodactyly-ectodermal dysplasia-clefting syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Sponastrime dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Kondrodysplasi, uspecificeret Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ectodermal dysplasia, syndactyly and pili torti Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dermodental dysplasi Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Kondrodysplasi, ikke nærmere specificeret Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Maxillo-zygomatic dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteodysplasi, uspecificeret Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Chondroectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Andre letale ossifikationsforsinkelsessyndromer Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Multipel epifyseal dysplasia tarda, type 3a Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ehlers-Danlos' syndrom, dominant type 4 Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Cole-Carpenter dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Achondrogenesis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteogenesis imperfecta, ikke nærmere specificeret Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Anonychia with bizarre flexural pigmentation Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Ectodermal dysplasia with hair-tooth defects Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Craniometaphyseal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Brachydactyly syndrome type E Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dysostosis multiplex group Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dentookulokutant syndrom Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Chondrodysplasia punctata Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Oculodentodigital syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Dyskondroplasi, ikke nærmere specificeret Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Salamon's syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Maxillary dysostosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Rhizomelic chondrodysplasia punctata syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Juvenile GM1 gangliosidosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hypohidrosis-diabetes insipidus syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Hallermann-Streiff syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Osteodysplasi, ikke nærmere specificeret Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Polydaktyli med neonatal kondrodystrofi, type I Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Ectodermal dysplasia-ocular malformation syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Skeletal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Fried's tooth and nail syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Patella dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Leri's pleonosteosis syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Greig cephalopolysyndactyly syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Scypho-patellar dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Greither type of ectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Kirman syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Mesomelic dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Schmid type Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hypochondroplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Mixed sclerosing bone dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Spondyloepifyseal dysplasi, ikke nærmere specificeret Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Senter syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ectodermal dysplasia with tooth-nail defects Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteodysplastic dysplasia, type I (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ectodermal dysplasia with tooth-sweating defect Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Spondyloepiphyseal dysplasia congenita Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Grebe syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    A type of pseudohypoparathyroidism with characteristics of resistance to parathyroid hormone (PTH), which manifests with hypocalcaemia, hyperphosphataemia and elevated PTH levels, absence of Albright's hereditary osteodystrophy and normal expression of the Gs protein with a normal urinary cAMP response. To date no specific genetic alteration responsible for this disorder has been detected. It has been hypothesised that in most cases it may be an acquired defect secondary to vitamin D deficiency such as in misdiagnosed secondary renal hyperparathyroidism. Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Familial expansile osteolysis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Sialic storage disease (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Mannosidosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteodysplastic dysplasia, type II (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Orofacial-digital syndrome III Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Tricho-oculodermovertebral syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Torg type osteolysis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Mikrocefalisk osteodysplastisk dysplasi Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Schoepf-Schulz-Passage syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Unilateral dysplastisk hofte Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Fibrøs dysplasi Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Odontotrichomelic syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Hajdu-Cheney syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Spondylodysplastic group Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Sclerosteosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Curly hair, ankyloblepharon, nail dysplasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1

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