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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 AKT2-related familial partial lipodystrophy 1197746001 Aneurysm osteoarthritis syndrome 785808002 Autoimmune interstitial lung disease, arthritis syndrome 1222679006 Autosomal dominant neovascular inflammatory vitreoretinopathy 770791000 Autosomal semi-dominant severe lipodystrophic laminopathy 1197747005 Autosomal systemic lupus erythematosus 773333003 Banki syndrome 733093004 Blindness, scoliosis, arachnodactyly syndrome 717920004 Carpenter's syndrome 205813009 removed: 2017-07-31 Carpotarsal osteochondromatosis 389272007 Chronic respiratory distress with surfactant metabolism deficiency 783182004 CIDEC-related familial partial lipodystrophy 1197749008 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 Ehlers-Danlos and osteogenesis imperfecta syndrome 733457006 Ehlers-Danlos syndrome 398114001 EMILIN-1-related connective tissue disease 1237511005 Exostosis, anetoderma, brachydactyly type E syndrome 733416004 Extensor tendons of finger anomalies 782937006 Familial articular hypermobility syndrome 71322004 Familial chondromalacia of patella 726628003 Familial interstitial nephritis 83923004 Familial partial lipodystrophy Dunnigan type 715439000 Familial partial lipodystrophy Kobberling type 725035001 Fleck corneal dystrophy 417183007 Franceschetti-Klein syndrome 62767009 removed: 2020-01-31 Gelatinous droplike corneal dystrophy 419900000 Generalized congenital lipodystrophy with myopathy 1156814008 Genochondromatosis type 1 1003427004 Genochondromatosis type 2 725904009 Gitelman syndrome 707756004 Glucoaminophosphaturia syndrome with rickets 23569000 removed: 2021-07-31 Gnathodiaphyseal dysplasia 715568002 Goldmann-Favre syndrome 232065000 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 Interstitial lung disease due to ABCA3 deficiency 1222678003 Interstitial lung disease due to surfactant protein C deficiency 1222677008 Karyomegalic interstitial nephritis 782738008 Keppen Lubinsky syndrome 1220589007 Keutel syndrome 724208006 Lattice corneal dystrophy 361199007 Leydig cell agenesis 56212008 LIPE-related familial partial lipodystrophy 1197751007 Lipodystrophy, intellectual disability, deafness syndrome 721973006 Macular corneal dystrophy 60258001 Mandibuloacral dysostosis 109419009 Marfan's syndrome 19346006 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 PPARG-related familial partial lipodystrophy 1197745002 Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome 723829000 Pulmonary interstitial glycogenosis 707551007 Retinal detachment and occipital encephalocele 703542000 Schnyder crystalline cornea dystrophy 419395007 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency 1228876007 Severe myopia, generalized joint laxity, short stature syndrome 1217372003 Severe neurodegenerative syndrome with lipodystrophy 773555005 Shell teeth 67504007 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 64572001 105969002 363045008 138875005 404684003 64572001 782964007 32895009 363045008 ancestors sorted most to least specific
cpt crosswalks Rules-based maps relating CPT® codes to and from SNOMED CT® clinical concepts. Forward and backward mapping allows for easy transition between code sets. Map-A-Code crosswalk tool easily crosswalks multiple codes between the code sets.
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