FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.4  |  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
    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
    Multiple congenital exostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Spondylodysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Short rib dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Atelosteogenese/diastrofisk dysplasi Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Kniest-Stickler dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dysostosis multiplex Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Furst-Ostrums syndrom Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Knoglekrumningsdysplasi Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Pseudokondroplasi Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Congenital exostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Symfalangi-brakydaktyli-syndrom Associated morphology False kongenit dysplasi Inferred relationship Some 1
    nyredysplasi, ikke nærmere specificeret Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Kondrodysplasi, uspecificeret Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dyskondroplasi, ikke nærmere specificeret Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Andre letale ossifikationsforsinkelsessyndromer Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Kondrodysplasi, ikke nærmere specificeret Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteodysplasi, uspecificeret Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteogenesis imperfecta, ikke nærmere specificeret Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Multipel epifyseal dysplasi, ikke nærmere specificeret Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Anden osteodysplasi, ikke nærmere specificeret Associated morphology False kongenit dysplasi Inferred relationship Some 1
    [X]Other osteochondrodysplasia with defects of growth of tubular bones and spine Associated morphology False kongenit dysplasi Inferred relationship Some 1
    [X]Other specified osteochondrodysplasias Associated morphology False kongenit dysplasi Inferred relationship Some 1
    [X]Osteochondrodysplasia with defect growth of tubular bone and spine unspecified Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Kondrodystrofi, ikke klassificeret andetsteds Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Anden specificeret osteodysplasi Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteodysplasi, ikke nærmere specificeret Associated morphology False kongenit dysplasi Inferred relationship Some 1
    [EDTA] Congenital renal dysplasia with or without urinary tract malformation associated with renal failure Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteogenesis imperfecta type I (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteogenesis imperfecta type III (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Thanatophoric dysplasia, type 1 (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Thanatophoric dysplasia, type 2 (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Spondyloepiphyseal dysplasia with joint laxity (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Sponastrime dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Acroscyphodysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Sedaghatian type (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Brakyolmi – Hobæk-type Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Brachyolmia - Maroteaux type (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Trichorhinophalangeal dysplasia type III (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Acromesomelic dysplasia Hunter-Thompson type (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Brachydactyly syndrome type B (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Brachydactyly syndrome type C (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Precocious osteodysplasty (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Yunis-Varon dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteoplastic dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteodysplastic dysplasia, type I (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteodysplastic dysplasia, type II (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Mikrocefalisk osteodysplastisk dysplasi Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Cole-Carpenter dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Mixed sclerosing bone dysplasia (disorder) 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
    Diaphyseal medullary stenosis with bone malignancy (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Lethal chondrodysplasia with fragmented bone (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Greenberg dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dappled diaphyseal dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Astley-Kendall dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Genochondromatosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Spondyloenchondromatosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Spondyloenchondromatosis with basal ganglia calcification (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Cherubism with gingival fibromatosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Patella dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Scypho-patellar dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Corneafragilitet, keratoglobus, blå sklera og hypermobile led Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Ehlers-Danlos syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Kutan asteni hos hunde OG/ELLER katte Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Chondrodysplasia punctata, Conradi-Hünermann type (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    A rare genodermatosis disease with great phenotypic variation and most common characteristic of ichthyosis following the lines of Blaschko, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature. Caused by mutations in the EBP gene (Xp11.23-p11.22) encoding the emopamil binding protein (EBP), which acts as a delta8-delta7-sterol isomerase that catalyzes the conversion of 8(9)-cholestenol to lathosterol in the distal cholesterol biosynthesis pathway. A deficiency in EBP leads to the accumulation of 8-dehydrocholesterol (8DHC) and 8(9)-cholestenol in the skin, plasma and other body tissues. Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Juvenile fucosidosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Adult fucosidosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    X-bundet dominant chondrodysplasia punctata Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Corneafragilitet, keratoglobus, blå sklera og hypermobile led Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Zygo-auromandibulær dysostose Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Otomandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Intermandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Corneafragilitet, keratoglobus, blå sklera og hypermobile led Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Kohlschutter's syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Ectodermal dysplasia with hair-tooth-nail-sweating defect (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hypohidrotic X-linked ectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Roselli-Gulienetti ectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Basan syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Greither type of ectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Anonychia with bizarre flexural pigmentation Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Tricho-onychodental dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ectodermal dysplasia with hair-tooth-nail defects Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Schoepf-Schulz-Passage syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Odonto-onychial dysplasia with alopecia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Fried's tooth and nail syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hypodontia and nail dysgenesis Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Dermodental dysplasi Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Salamon's syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ectodermal dysplasia, syndactyly and pili torti Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dwarfism, alopecia, pseudoanodontia, cutis laxa Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hypohidrosis-diabetes insipidus syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Ectodermal dysplasia with hair-tooth defects Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Odontotrichomelic syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Orofacial-digital syndrome III Associated morphology False kongenit dysplasi Inferred relationship Some 2

    Start Previous Page 4 of 21 Next End

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

    Back to Start