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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

    0 descendants.

    Expanded Value Set

    Outbound Relationships Type Target Active Characteristic Refinability Group Values
    Congenital dysplasia Is a anomalie congénitale false Inferred relationship Some
    Congenital dysplasia Is a Dysplasia false Inferred relationship Some
    Congenital dysplasia Is a Congenital malformation false Inferred relationship Some
    Congenital dysplasia Is a anomalie du développement false Inferred relationship Some
    Inbound Relationships Type Active Source Characteristic Refinability Group
    Saldino-Mainzer dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Infantile GM1 gangliosidosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Metachondromatosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dysplasias with significant membranous bone involvement Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Carpal-tarsal osteolysis with nephropathy (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Juvenile idiopathic generalised osteoporosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Diastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Kniest-Stickler dysplasia group Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Scypho-patellar dysplasia (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Rhizomelic chondrodysplasia punctata syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Pseudodiastrophic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Patella dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    3-M syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Spheno-frontal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Dysostosis of bone of skull Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Acromicric dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Otomandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Achondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Brachydactyly syndrome type B (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Cleidocranial dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Baller-Gerold syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Brachydactyly syndrome type C (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Short rib-polydactyly syndrome, Majewski type Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Shwachman syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Short rib-polydactyly syndrome, non-Majewski type Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Fronto-frontal dysostosis (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Oculodento-osseous dysplasia - severe type Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Hypoplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Leri-Weill dyschondrosteosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Hyperplastic chondrodystrophy Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Otomandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Craniometaphyseal dysplasia - severe type Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Zygo-auro-mandibular dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Achondroplasia Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Furst-Ostrum syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Brachydactyly syndrome type E Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Oculodento-osseous dysplasia - mild type (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Craniometaphyseal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Craniometaphyseal dysplasia - mild type Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Stickler syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Fronto-malar faciosynostosis Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Madelung's deformity (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Antley-Bixler syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 6
    Severe achondrolasia with developmental delay and acanthosis nigricans Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Intermaxillo-palatine dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Internasal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Weill-Marchesani syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Congenital onychodysplasia of index fingers (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 1
    A rare skeletal dysplasia characterized by peculiar facial anomalies, Pierre Robin sequence, cleft palate, shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype. Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Fronto-naso-ethmoidal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Camurati-Engelmann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterised by 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. Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, dominant type 4 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, dominant type 4 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome, recessive type 4 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, recessive type 4 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    syndrome d'Ehlers-Danlos type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    syndrome d'Ehlers-Danlos type 1 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    syndrome d'Ehlers-Danlos de type 7B Associated morphology False Congenital dysplasia Inferred relationship Some 2
    syndrome d'Ehlers-Danlos de type 7B Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Familial articular hypermobility syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Familial articular hypermobility syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    syndrome d'Ehlers-Danlos type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 2
    syndrome d'Ehlers-Danlos type 2 Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Vascular Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Vascular Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Periodontal Ehlers-Danlos syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Ehlers-Danlos syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome, dysfibronectinemic Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, dysfibronectinemic Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Ehlers-Danlos syndrome, hydroxylysine-deficient Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Arthrochalasia Ehlers-Danlos syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Arthrochalasia Ehlers-Danlos syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Acrodysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 7
    X-linked Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 2
    X-linked Ehlers-Danlos syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Hypermobile Ehlers-Danlos syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hypermobile Ehlers-Danlos syndrome (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Cutis laxa, x-linked Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Cutis laxa, x-linked Associated morphology False Congenital dysplasia Inferred relationship Some 3
    syndrome d'Ehlers-Danlos de type cyphoscoliotique Associated morphology False Congenital dysplasia Inferred relationship Some 2
    syndrome d'Ehlers-Danlos de type cyphoscoliotique Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Corneal fragility keratoglobus, blue sclerae AND joint hypermobility Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Sphenoidal dysostosis Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Tarsal-carpal coalition syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitreoretinal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Vitreoretinal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Hay-Wells syndrome of ectodermal dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 5
    Spondyloenchondrodysplasia with immune dysregulation Associated morphology False Congenital dysplasia Inferred relationship Some 2
    Anhidrotic ectodermal dysplasia with immune deficiency (disorder) Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Autosomal dominant hypohidrotic ectodermal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Hallermann-Streiff syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 4
    Autosomal recessive hypohidrotic ectodermal dysplasia syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 3
    Geleophysic dysplasia Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Camurati-Engelmann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterised by 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. Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Baller-Gerold syndrome Associated morphology False Congenital dysplasia Inferred relationship Some 1
    Oculodento-osseous dysplasia - severe type Associated morphology False Congenital dysplasia Inferred relationship Some 2

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    Reference Sets

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