FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.8.6  |  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
    Saldino-Mainzer dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Infantile GM1 gangliosidosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Metachondromatosis (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Dysplasias with significant membranous bone involvement (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Carpal-tarsal osteolysis with nephropathy Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Juvenile idiopathic generalized osteoporosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Diastrophic dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Kniest-Stickler-dysplasigruppe Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Scypho-patellar dysplasia (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Rhizomelic chondrodysplasia punctata syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Pseudodiastrophic dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Patella dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    3-M syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Spheno-frontal dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Dysostosis of bone of skull Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Acromicric dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Otomandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Achondroplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Brachydactyly syndrome type B (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Cleidocranial dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 6
    Baller-Gerold syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Brachydactyly syndrome type C (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Short rib-polydactyly syndrome, Majewski type Associated morphology False kongenit dysplasi Inferred relationship Some 5
    Shwachman syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Polydaktyli med neonatal kondrodystrofi, type I Associated morphology False kongenit dysplasi Inferred relationship Some 5
    Fronto-frontal dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Oculodento-osseous dysplasia - severe type Associated morphology False kongenit dysplasi Inferred relationship Some 6
    Hypoplastic chondrodystrophy Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Leri-Weill dyschondrosteosis Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Hyperplastisk kondrodystrofi Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Otomandibular dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Craniometaphyseal dysplasia - severe type (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Zygo-auromandibulær dysostose Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Achondroplasia Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Furst-Ostrums syndrom Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Brachydactyly syndrome type E Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Oculodento-osseous dysplasia - mild type Associated morphology False kongenit dysplasi Inferred relationship Some 6
    Craniometaphyseal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Craniometaphyseal dysplasia - mild type Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Stickler syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 5
    Fronto-malar faciosynostosis Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Madelung's deformity Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Antley-Bixler syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 6
    Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology False kongenit dysplasi Inferred relationship Some 1
    intermaksillo-palatinum-dysostose Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Internasal dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Weill-Marchesani syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Congenital onychodysplasia of index fingers (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 1
    A rare skeletal dysplasia with characteristics of peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible individuals with a male karyotype. The disorder is autosomal dominant; however, most cases are due to heterozygous de novo mutations in the SOX9 gene (localized to 17q24). In rare individuals the disorder is caused by chromosomal recombination (deletion or translocation) involving the region 17q24. Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Fronto-naso-ethmoidal dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    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 2
    Ehlers-Danlos' syndrom, dominant type 4 Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Ehlers-Danlos' syndrom, dominant type 4 Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Ehlers-Danlos' syndrom, recessiv type 4 Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Ehlers-Danlos' syndrom, recessiv type 4 Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Ehlers-Danlos' syndrom, type 1 Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Ehlers-Danlos' syndrom, type 1 Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Ehlers-Danlos' syndrom, prokollagenproteinaseresistent Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Ehlers-Danlos' syndrom, prokollagenproteinaseresistent Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Familial articular hypermobility syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Familial articular hypermobility syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Ehlers-Danlos' syndrom, type 2 Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Ehlers-Danlos' syndrom, type 2 Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Vascular Ehlers-Danlos syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Vascular Ehlers-Danlos syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 4
    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 3
    Ehlers-Danlos syndrome, dysfibronectinemic Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Ehlers-Danlos syndrome, dysfibronectinemic Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Corneafragilitet, keratoglobus, blå sklera og hypermobile led Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Arthrochalasia Ehlers-Danlos syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Arthrochalasia Ehlers-Danlos syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Acrodysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 7
    X-linked Ehlers-Danlos syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 2
    X-linked Ehlers-Danlos syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Hypermobile Ehlers-Danlos syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Hypermobile Ehlers-Danlos syndrome (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Cutis laxa, x-linked Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Cutis laxa, x-linked Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Ehlers-Danlos' syndrom, ikke-hydroxylysinfattig okulær type Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Ehlers-Danlos' syndrom, ikke-hydroxylysinfattig okulær type Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Corneafragilitet, keratoglobus, blå sklera og hypermobile led Associated morphology False kongenit dysplasi Inferred relationship Some 5
    Sphenoidal dysostosis Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Tarsal-carpal coalition syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Vitreoretinal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Vitreoretinal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Hay-Wells syndrome of ectodermal dysplasia Associated morphology False kongenit dysplasi Inferred relationship Some 5
    Spondyloenchondrodysplasia with immune dysregulation Associated morphology False kongenit dysplasi Inferred relationship Some 2
    Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Hallermann-Streiff syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 4
    Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 3
    Geleophysic dysplasia 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
    Baller-Gerold syndrome Associated morphology False kongenit dysplasi Inferred relationship Some 1
    Oculodento-osseous dysplasia - severe type Associated morphology False kongenit dysplasi Inferred relationship Some 2

    Start Previous Page 13 of 21 Next End

    Reference Sets

    Concept inactivation indicator reference set

    SAME AS association reference set (foundation metadata concept)

    Back to Start