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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
    Geroderma osteodysplastica Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hereditary acroosteolysis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Feline osteogenesis imperfecta Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Odontomicronychial ectodermal dysplasia (disorder) Associated morphology False kongenit dysplasi 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 kongenit dysplasi Inferred relationship Some 1
    Carpal-tarsal osteolysis with nephropathy Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Namaqualand hip dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Vitamin D-dependent rickets type II with alopecia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Spondyloepimetafyseal dysplasi med løshed i led Associated morphology False kongenit dysplasi 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 heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form. Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Berlin syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteokondrodysplasi Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Oral-facial-digital syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Osteoglophonic dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Brakyraki Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteodysplasi Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Winchester syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Familial articular hypermobility syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Fronto-naso-ethmoidal dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Osteopathia striata Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Marshall syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dysplasia epiphysealis hemimelica Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Trichorhinophalangeal syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Epiphyseal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Mannosidosis, type I Associated morphology False kongenit dysplasi Inferred relationship Some 1
    [X]Other specified osteochondrodysplasias Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Sialic acid storage disease, severe infantile type Associated morphology False kongenit dysplasi Inferred relationship Some 1
    A rare genetic syndrome with characteristics of limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form and a more severe autosomal recessive form. The syndrome has a wide clinical spectrum. Transmission is autosomal dominant or recessive. Associated morphology False kongenit dysplasi Inferred relationship Some 1
    lymfopenisk agammaglobulinæmi kombineret med dværgvækstsyndrom med korte ekstremiteter Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Dwarfism, alopecia, pseudoanodontia, cutis laxa Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Shwachman syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Metatropic dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Geleophysic dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Achondroplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Diastrophic dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Unilateral kongenit dysplasi af lunge med vaskulære anomalier Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Thanatophoric dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Renal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Chondroectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Chondroectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Autosomal dominant hypophosphataemic bone disease Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hajdu-Cheney syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Hyperphosphatasemia tarda Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Cherubism with gingival fibromatosis (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
    Corneafragilitet, keratoglobus, blå sklera og hypermobile led Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Diaphyseal medullary stenosis with bone malignancy (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Vitreoretinal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Vitreoretinal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Saldino-Mainzer dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology False kongenit dysplasi Inferred relationship Some 5
    Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Hypoplasia of right ventricular inflow tract (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Fibrøs dysplasi Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Progressive diaphyseal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Cerebrofacial dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Cerebrofacial dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Stickler syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 7
    Hepatoportal microvascular dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Hereditary mucoepithelial dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    lymfopenisk agammaglobulinæmi kombineret med dværgvækstsyndrom med korte ekstremiteter Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Larsen syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    A severe form of otopalatodigital syndrome spectrum disorder with characteristics of dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system and intestine) and poor survival. 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 are less severely affected. 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 3
    Maxillo-zygomatic dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Hypophosphataemic rickets with nephrotic-glycosuric dwarfism Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Genochondromatosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Osteopathia striata with cranial sclerosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Mukolipidose IV Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Temporo-auro-mandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Achondrogenesis, type IA Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Familial expansile osteolysis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Mandibuloacral dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Kondrodysplasi, specificeret på anden måde Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Mannosidosis, type II Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Pyle metaphyseal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Infantile cortical hyperostosis Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Pseudohypoparatyroidisme og pseudopseudohypoparatyroidisme, type I Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Metaphyseal chondrodysplasia, Jansen type Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Geleophysic dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Spondylodysplasia, San Diego type Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Spondylodysplasia, Torrance type Associated morphology False kongenit dysplasi Inferred relationship Some 2
    kongenit chondrodysplasia punctata Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Hyperphosphatasia-osteoectasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Mannosidosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Dysostosis multiplex group Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Spondyloepifyseal dysplasi, ikke nærmere specificeret Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Metaphyseal anadysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Miller syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Singleton-Merten syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Brakyolmi – Hobæk-type Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Dysosteosclerosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Atelosteogenese/diastrofisk dysplasi Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Worth disease Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Acroscyphodysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Epiphyseal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2

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    Reference Sets

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    SAME AS association reference set (foundation metadata concept)

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