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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
    Greenberg dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Craniodiaphyseal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dysplasia with decreased bone density Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hidrotic ectodermal dysplasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteodysplastic primordial dwarfism, type 1 Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Multiple dislocations with dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Autosomal dominant hypophosphatemic rickets Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Chondrodysplasia punctata, Conradi-Hünermann type (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Nail-patella syndrome is a rare hereditary patellar dysostosis with characteristics of 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 kongenit dysplasi Inferred relationship Some 1
    Osteogenesis imperfecta with blue sclerae AND normal teeth Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteodysplastisk primordial dværgvækst, type 2 Associated morphology False kongenit dysplasi Inferred relationship Some 1
    X-bundet dominant chondrodysplasia punctata Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Mukolipidose IV Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ehlers-Danlos' syndrom, prokollagenproteinaseresistent Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteodysplastic primordial dwarfism Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Robinson nail dystrophy-deafness syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Langer mesomelic dysplasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Chondrodysplasia punctata, X-linked recessive type Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dysostosis multiplex Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Atelosteogenesis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Salla disease Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Furst-Ostrums syndrom Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Kniest-Stickler dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Cerebellar cortical dysplasia (disorder) 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
    Hyperplastisk kondrodystrofi Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Spondyloenchondromatosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Desbuquois syndrome (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
    Stuve-Wiedemann dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Lethal Kniest-like syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Infantile GM1 gangliosidosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Familial x-linked hypophosphatemic vitamin D refractory rickets Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Melnick-Needles syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Arthrochalasia Ehlers-Danlos syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Langer-Giedion syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Kondrodystrofi, ikke klassificeret andetsteds Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dysplasias with significant membranous bone involvement (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Sphenoidal dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Trichorhinophalangeal dysplasia type I Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Adult GM1 gangliosidosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Lethal chondrodysplasia with fragmented bone (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Enchondromatosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    GM1 gangliosidosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Cranioectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Pseudokondroplasi Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Cutis laxa, x-linked Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Congenital ovarian dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Short rib dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Polyostotic fibrous dysplasia of bone Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Spondylodysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Fronto-malar faciosynostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Atelosteogenese/diastrofisk dysplasi Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Metaphyseal anadysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Jansen type Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Saldino-Mainzer dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteogenesis imperfecta with blue sclerae AND dentinogenesis imperfecta (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Genochondromatosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hyperphosphatasia-osteoectasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ectodermal dysplasia with sweating defect Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Defects of the tubular (and flat) bones and/or axial skeleton Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Progressive pseudorheumatoid dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Spondylometaphyseal dysplasia - Sutcliffe type Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Metaphyseal chondrodysplasia, Spahr type (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Brachyolmia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Acromicric dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Knoglekrumningsdysplasi Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Kyphomelic dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Singleton-Merten syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteopathia striata with cranial sclerosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Frontal dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Symfalangi-brakydaktyli-syndrom Associated morphology False kongenit dysplasi Inferred relationship Some 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 kongenit dysplasi Inferred relationship Some 1
    Metachondromatosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Multipel epifyseal dysplasi, ikke nærmere specificeret Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Omodysplasi II Associated morphology False kongenit dysplasi Inferred relationship Some 1
    kerubisme Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Kniest dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    The mildest form of otopalatodigital syndrome spectrum disorder, characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies. Caused by gain of function mutations in the gene FLNA (Xq28) that encodes filamin A. Inherited in an X-linked dominant manner. Male-to-male transmission has not been reported. The chance of transmitting the mutation in each pregnancy is 50%; males inheriting the mutation will be affected while females who inherit the mutation have a broad range of phenotypic expression. Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ehlers-Danlos' syndrom, type 1 Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Short rib-polydactyly syndrome, Majewski type Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Ehlers-Danlos syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Odonto-onycho-dermal dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Achondrogenesis, type IA Associated morphology False kongenit dysplasi Inferred relationship Some 1
    A rare clinically variable bone dysplasia syndrome with characteristics of 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. In more than 90% of patients, mutations in the transforming growth factor TGFB1 gene (19q13.1) are detected. Inherited as an autosomal dominant trait with reduced penetrance. Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Curry-Hall syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Pyle metaphyseal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteogenesis imperfecta, type IV B (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
    Osteoplastic dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Craniometaphyseal dysplasia - mild type Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Bruck syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Weill-Marchesani syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Multiple epiphyseal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Schneckenbecken dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Orofacial-digital syndrome IV Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Chondrodysplasia punctata Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Thanatophoric dysplasia, type 1 (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Geroderma osteodysplastica Associated morphology False kongenit dysplasi Inferred relationship Some 1

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