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363045008: Connective tissue hereditary disorder (disorder)

Status: current, Defined. Date: 31-Jul 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3038367019 Inherited disorder of connective tissue en Synonym Active Case insensitive SNOMED CT core
482180014 Connective tissue hereditary disorder en Synonym Active Case insensitive SNOMED CT core
754824015 Connective tissue hereditary disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

149 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inherited disorder of connective tissue Is a Disorder of connective tissue true Inferred relationship Some
Inherited disorder of connective tissue Is a Hereditary disorder by system false Inferred relationship Some
Inherited disorder of connective tissue Finding site Connective tissue structure true Inferred relationship Some 1
Inherited disorder of connective tissue Finding site Body system structure false Inferred relationship Some
Inherited disorder of connective tissue Is a Hereditary disease false Inferred relationship Some
Inherited disorder of connective tissue Is a Hereditary disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Ehlers-Danlos syndrome classic type Is a False Inherited disorder of connective tissue Inferred relationship Some
Ehlers-Danlos syndrome, procollagen proteinase deficient Is a False Inherited disorder of connective tissue Inferred relationship Some
Ehlers-Danlos syndrome with periventricular heterotopia Is a False Inherited disorder of connective tissue Inferred relationship Some
Ehlers-Danlos syndrome cardiac valvular type Is a False Inherited disorder of connective tissue Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type Is a False Inherited disorder of connective tissue Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type Is a False Inherited disorder of connective tissue Inferred relationship Some
Ehlers-Danlos and osteogenesis imperfecta syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Ehlers-Danlos syndrome progeroid type Is a False Inherited disorder of connective tissue Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic type Is a False Inherited disorder of connective tissue Inferred relationship Some
Ehlers-Danlos syndrome vascular-like type Is a False Inherited disorder of connective tissue Inferred relationship Some
Brittle cornea syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Ehlers-Danlos syndrome spondylocheirodysplastic type Is a False Inherited disorder of connective tissue Inferred relationship Some
Autosomal systemic lupus erythematosus Is a True Inherited disorder of connective tissue Inferred relationship Some
Severe neurodegenerative syndrome with lipodystrophy Is a True Inherited disorder of connective tissue Inferred relationship Some
Epidermolysis bullosa simplex due to exophilin 5 deficiency Is a False Inherited disorder of connective tissue Inferred relationship Some
Epidermolysis bullosa simplex due to BP230 deficiency Is a False Inherited disorder of connective tissue Inferred relationship Some
Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Familial angiolipomatosis Is a False Inherited disorder of connective tissue Inferred relationship Some
Ehlers-Danlos syndrome due to tenascin-X deficiency Is a False Inherited disorder of connective tissue Inferred relationship Some
Leydig cell agenesis Is a True Inherited disorder of connective tissue Inferred relationship Some
Karyomegalic interstitial nephritis Is a True Inherited disorder of connective tissue Inferred relationship Some
Extensor tendons of finger anomalies Is a True Inherited disorder of connective tissue Inferred relationship Some
Chronic respiratory distress with surfactant metabolism deficiency Is a True Inherited disorder of connective tissue Inferred relationship Some
Inherited cutis laxa Is a True Inherited disorder of connective tissue Inferred relationship Some
Perilipin 1 related familial partial lipodystrophy Is a True Inherited disorder of connective tissue Inferred relationship Some
Aneurysm osteoarthritis syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
Hereditary vitreoretinopathy Is a True Inherited disorder of connective tissue Inferred relationship Some
Dysplasia epiphysealis hemimelica Is a True Inherited disorder of connective tissue Inferred relationship Some
Metachondromatosis Is a True Inherited disorder of connective tissue Inferred relationship Some
Meretoja syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Gelatinous droplike corneal dystrophy Is a True Inherited disorder of connective tissue Inferred relationship Some
Carpotarsal osteochondromatosis Is a True Inherited disorder of connective tissue Inferred relationship Some
Inherited pseudoxanthoma elasticum Is a True Inherited disorder of connective tissue Inferred relationship Some
Granular corneal dystrophy Is a True Inherited disorder of connective tissue Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type Is a True Inherited disorder of connective tissue Inferred relationship Some
Autosomal dominant neovascular inflammatory vitreoretinopathy Is a True Inherited disorder of connective tissue Inferred relationship Some
Genochondromatosis type 1 Is a True Inherited disorder of connective tissue Inferred relationship Some
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
Shell teeth Is a True Inherited disorder of connective tissue Inferred relationship Some
Generalised congenital lipodystrophy with myopathy Is a True Inherited disorder of connective tissue Inferred relationship Some
PPARG-related familial partial lipodystrophy Is a True Inherited disorder of connective tissue Inferred relationship Some
AKT2-related familial partial lipodystrophy Is a True Inherited disorder of connective tissue Inferred relationship Some
Autosomal semi-dominant severe lipodystrophic laminopathy Is a True Inherited disorder of connective tissue Inferred relationship Some
CIDEC-related familial partial lipodystrophy Is a True Inherited disorder of connective tissue Inferred relationship Some
LIPE-related familial partial lipodystrophy Is a True Inherited disorder of connective tissue Inferred relationship Some
Gitelman syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
Severe myopia, generalised joint laxity, short stature syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
Keppen Lubinsky syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
Interstitial lung disease due to surfactant protein C deficiency Is a True Inherited disorder of connective tissue Inferred relationship Some
Interstitial lung disease due to ABCA3 deficiency Is a True Inherited disorder of connective tissue Inferred relationship Some
Autoimmune interstitial lung disease, arthritis syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Is a True Inherited disorder of connective tissue Inferred relationship Some
Goldmann-Favre syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
EMILIN-1-related connective tissue disease Is a True Inherited disorder of connective tissue Inferred relationship Some
Familial Mediterranean fever Is a True Inherited disorder of connective tissue Inferred relationship Some
Autosomal dominant hypophosphataemic rickets Is a False Inherited disorder of connective tissue Inferred relationship Some
Autosomal recessive hypophosphataemic bone disease Is a False Inherited disorder of connective tissue Inferred relationship Some
Nail-patella syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Glucoaminophosphaturia syndrome with rickets Is a False Inherited disorder of connective tissue Inferred relationship Some
Morquio syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Papillon-Lefèvre syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Fanconi syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Cherubism Is a False Inherited disorder of connective tissue Inferred relationship Some
Hereditary nephrogenic diabetes insipidus Is a False Inherited disorder of connective tissue Inferred relationship Some
Infantile nephropathic cystinosis Is a True Inherited disorder of connective tissue Inferred relationship Some
Metabolic disease of collagen Is a False Inherited disorder of connective tissue Inferred relationship Some
Hereditary oedema of legs Is a False Inherited disorder of connective tissue Inferred relationship Some
Hereditary tubulointerstitial disorder Is a True Inherited disorder of connective tissue Inferred relationship Some
Farber's lipogranulomatosis Is a True Inherited disorder of connective tissue Inferred relationship Some
Neurofibromatosis type 1 Is a False Inherited disorder of connective tissue Inferred relationship Some
Familial Mediterranean fever Is a False Inherited disorder of connective tissue Inferred relationship Some
Gouty tophus of tendon Is a False Inherited disorder of connective tissue Inferred relationship Some
Familial interstitial nephritis Is a True Inherited disorder of connective tissue Inferred relationship Some
Hypermobility syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some
Craniodiaphyseal dysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
Mandibuloacral dysostosis Is a True Inherited disorder of connective tissue Inferred relationship Some
Marfan's syndrome affecting skin Is a False Inherited disorder of connective tissue Inferred relationship Some
Autosomal dominant hypophosphataemic bone disease Is a False Inherited disorder of connective tissue Inferred relationship Some
Autosomal recessive hypophosphataemic bone disease Is a False Inherited disorder of connective tissue Inferred relationship Some
Cutis laxa, autosomal dominant Is a False Inherited disorder of connective tissue Inferred relationship Some
Geroderma osteodysplastica Is a False Inherited disorder of connective tissue Inferred relationship Some
Dysostosis multiplex group Is a False Inherited disorder of connective tissue Inferred relationship Some
Lattice corneal dystrophy Is a True Inherited disorder of connective tissue Inferred relationship Some
Glucoaminophosphaturia syndrome with rickets Is a False Inherited disorder of connective tissue Inferred relationship Some
Pyle metaphyseal dysplasia Is a False Inherited disorder of connective tissue Inferred relationship Some
Morquio syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Papillon-Lefèvre syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Freeman-Sheldon syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Cherubism Is a False Inherited disorder of connective tissue Inferred relationship Some
Rhizomelic chondrodysplasia punctata syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Menkes kinky-hair syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Cutis laxa, autosomal recessive Is a False Inherited disorder of connective tissue Inferred relationship Some
Franceschetti-Klein syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Acrodysostosis Is a False Inherited disorder of connective tissue Inferred relationship Some
Acrocephalosyndactyly type V Is a False Inherited disorder of connective tissue Inferred relationship Some
Benign autosomal dominant osteopetrosis Is a False Inherited disorder of connective tissue Inferred relationship Some
Robinow syndrome Is a False Inherited disorder of connective tissue Inferred relationship Some
Multiple congenital exostosis Is a True Inherited disorder of connective tissue Inferred relationship Some
Spondyloenchondromatosis Is a True Inherited disorder of connective tissue Inferred relationship Some
Whyte Hemingway carpal tarsal phalangeal osteolyses Is a False Inherited disorder of connective tissue Inferred relationship Some
Ehlers-Danlos syndrome Is a True Inherited disorder of connective tissue Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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