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Connective tissue hereditary disorder 363045008 SNOMED CT code SNOMED code 363045008 name Connective tissue hereditary disorder status active date introduced 2002-01-31 fully specified name(s) Connective tissue hereditary disorder (disorder) synonyms Inherited disorder of connective tissue Connective tissue hereditary disorder attributes - group1 Finding site Connective tissue structure 21793004 parents children Aneurysm osteoarthritis syndrome 785808002 Autosomal dominant neovascular inflammatory vitreoretinopathy 770791000 Autosomal systemic lupus erythematosus 773333003 Banki syndrome 733093004 Bartter syndrome type 4a 717791000 Blindness, scoliosis, arachnodactyly syndrome 717920004 Carpenter's syndrome 205813009 removed: 2017-07-31 Carpotarsal osteochondromatosis 389272007 Chronic respiratory distress with surfactant metabolism deficiency 783182004 Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome 733453005 Congenital short costocoracoid ligament 725101002 Congenital stromal corneal dystrophy 702359002 Dermatosparaxis in cattle AND/OR sheep 397778004 removed: 2016-01-31 Dysplasia epiphysealis hemimelica 205480005 EAST (Epilepsy, ataxia, sensorineural deafness, and tubulopathy) syndrome 700448000 Ehlers-Danlos syndrome 398114001 Exostosis, anetoderma, brachydactyly type E syndrome 733416004 Extensor tendons of finger anomalies 782937006 Familial chondromalacia patellae 726628003 Familial interstitial nephritis 83923004 Familial Mediterranean fever 12579009 Familial partial lipodystrophy Dunnigan type 715439000 Familial partial lipodystrophy Kobberling type 725035001 Farber's lipogranulomatosis 79935000 Fleck corneal dystrophy 417183007 Franceschetti-Klein syndrome 62767009 removed: 2020-01-31 Gelatinous droplike corneal dystrophy 419900000 Genochondromatosis type 2 725904009 Gnathodiaphyseal dysplasia 715568002 Grange syndrome 717824007 Granular corneal dystrophy 45283008 Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome 771306007 Hereditary tubulointerstitial disorder 78815005 Hereditary vitreoretinopathy 232062002 Hypermobility syndrome 85551004 Hypoplasia and coloboma of alar cartilage with telecanthus syndrome 722284009 Infantile nephropathic cystinosis 62332007 Inherited cutis laxa 254220005 Inherited pseudoxanthoma elasticum 402782006 Karyomegalic interstitial nephritis 782738008 Keutel syndrome 724208006 Lattice corneal dystrophy 361199007 Leydig cell agenesis 56212008 Lipodystrophy, intellectual disability, deafness syndrome 721973006 Macular corneal dystrophy 60258001 Mandibuloacral dysostosis 109419009 Marden Walker syndrome 449824004 Marfan's syndrome 19346006 Meretoja syndrome 419398009 Metachondromatosis 205481009 Metaphyseal chondrodysplasia, McKusick type 7720002 Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria 724146008 Mule foot deformity 373432000 removed: 2014-01-31 Multiple congenital exostosis 254044004 Perilipin 1 related familial partial lipodystrophy 783616005 Posterior amorphous corneal dystrophy 719296002 Pulmonary interstitial glycogenosis 707551007 Retinal detachment and occipital encephalocele 703542000 Schnyder crystalline cornea dystrophy 419395007 Severe neurodegenerative syndrome with lipodystrophy 773555005 Shprintzen Goldberg craniosynostosis syndrome 719069008 Spondyloenchondromatosis 389268008 Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome 766821006 Upington disease 719041000 hierarchies a selection of possible paths
SNOMED CT Concept 138875005 404684003 118234003 123946008 105969002 363045008 138875005 404684003 64572001 782964007 32895009 363045008 ancestors sorted most to least specific
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