Connective tissue hereditary disorder

Code	`363045008`
Semantic tag	disorder
Module	international
Definition	defined
Effective time	20020731

1197746001AKT2-related familial partial lipodystrophy disorder

785808002Aneurysm osteoarthritis syndrome disorder

1222679006Autoimmune interstitial lung disease, arthritis syndrome disorder

770791000Autosomal dominant neovascular inflammatory vitreoretinopathy disorder

1197747005Autosomal semi-dominant severe lipodystrophic laminopathy disorder

773333003Autosomal systemic lupus erythematosus disorder

733093004Banki syndrome disorder

717920004Blindness, scoliosis, arachnodactyly syndrome disorder

1197749008CIDEC-related familial partial lipodystrophy disorder

389272007Carpotarsal osteochondromatosis disorder

389273002Cherubism with gingival fibromatosis disorder

783182004Chronic respiratory distress with surfactant metabolism deficiency disorder

733453005Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome disorder

725101002Congenital short costocoracoid ligament disorder

702359002Congenital stromal corneal dystrophy disorder

205480005Dysplasia epiphysealis hemimelica disorder

1237511005EMILIN-1-related connective tissue disease disorder

733457006Ehlers-Danlos and osteogenesis imperfecta syndrome disorder

398114001Ehlers-Danlos syndrome disorder

733416004Exostosis, anetoderma, brachydactyly type E syndrome disorder

782937006Extensor tendons of finger anomalies disorder

71322004Familial articular hypermobility syndrome disorder

1220590003Familial chilblain lupus erythematosus disorder

726628003Familial chondromalacia of patella disorder

83923004Familial interstitial nephritis disorder

715439000Familial partial lipodystrophy Dunnigan type disorder

725035001Familial partial lipodystrophy Kobberling type disorder

1348304006Fibrosis, neurodegeneration, cerebral angiomatosis syndrome disorder

417183007Fleck corneal dystrophy disorder

419900000Gelatinous droplike corneal dystrophy disorder

1156814008Generalised congenital lipodystrophy with myopathy disorder

1003427004Genochondromatosis type 1 disorder

725904009Genochondromatosis type 2 disorder

707756004Gitelman syndrome disorder

715568002Gnathodiaphyseal dysplasia disorder

232065000Goldmann-Favre syndrome disorder

717824007Grange syndrome disorder

45283008Granular corneal dystrophy disorder

771306007Hereditary fibrosing poikiloderma, tendon contractures, myopathy, pulmonary fibrosis syndrome disorder

78815005Hereditary tubulointerstitial disorder disorder

232062002Hereditary vitreoretinopathy disorder

85551004Hypermobility syndrome disorder

722284009Hypoplasia and coloboma of alar cartilage with telecanthus syndrome disorder

62332007Infantile nephropathic cystinosis disorder

254220005Inherited cutis laxa disorder

402782006Inherited pseudoxanthoma elasticum disorder

1222678003Interstitial lung disease due to ABCA3 deficiency disorder

1222677008Interstitial lung disease due to surfactant protein C deficiency disorder

782738008Karyomegalic interstitial nephritis disorder

1220589007Keppen Lubinsky syndrome disorder

724208006Keutel syndrome disorder

1197751007LIPE-related familial partial lipodystrophy disorder

361199007Lattice corneal dystrophy disorder

56212008Leydig cell agenesis disorder

721973006Lipodystrophy, intellectual disability, deafness syndrome disorder

1354861009Lung disease, immunodeficiency, chromosome breakage syndrome disorder

60258001Macular corneal dystrophy disorder

109419009Mandibuloacral dysostosis disorder

19346006Marfan's syndrome disorder

205481009Metachondromatosis disorder

7720002Metaphyseal chondrodysplasia, McKusick type disorder

724146008Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria disorder

254044004Multiple congenital exostosis disorder

1381540004P3H2 gene related high myopia, cataract, vitreoretinal degeneration disorder

1197745002PPARG-related familial partial lipodystrophy disorder

783616005Perilipin 1 related familial partial lipodystrophy disorder

719296002Posterior amorphous corneal dystrophy disorder

723829000Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome disorder

707551007Pulmonary interstitial glycogenosis disorder

703542000Retinal detachment and occipital encephalocoele disorder

419395007Schnyder crystalline cornea dystrophy disorder

1228876007Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency disorder

1217372003Severe myopia, generalised joint laxity, short stature syndrome disorder

773555005Severe neurodegenerative syndrome with lipodystrophy disorder

67504007Shell teeth disorder

719069008Shprintzen Goldberg craniosynostosis syndrome disorder

389268008Spondyloenchondromatosis disorder

766821006Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome disorder

719041000Upington disease disorder

1373745005X-linked severe syndromic thoracic aortic aneurysm and dissection disorder

Connective tissue hereditary disorder

Synonyms

Parents (2)

Children (80)