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363045008: Connective tissue hereditary disorder (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jul 2002. Module: SNOMED CT core module

Descriptions:

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

148 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Connective tissue hereditary disorder Is a Hereditary disease false Inferred relationship Existential restriction modifier
Connective tissue hereditary disorder Is a Disorder of connective tissue true Inferred relationship Existential restriction modifier
Connective tissue hereditary disorder Is a Hereditary disorder by system false Inferred relationship Existential restriction modifier
Connective tissue hereditary disorder Finding site Connective tissue structure true Inferred relationship Existential restriction modifier 1
Connective tissue hereditary disorder Finding site Body system structure false Inferred relationship Existential restriction modifier
Connective tissue hereditary disorder Is a Hereditary disease true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Carpotarsal osteochondromatosis Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Inherited pseudoxanthoma elasticum Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Granular corneal dystrophy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Metaphyseal chondrodysplasia, McKusick type Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant neovascular inflammatory vitreoretinopathy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Genochondromatosis type 1 Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Shell teeth Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Generalized congenital lipodystrophy with myopathy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
AKT serine/threonine kinase 2-related familial partial lipodystrophy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Autosomal semi-dominant severe lipodystrophic laminopathy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Cell death inducing DFFA like effector C-related familial partial lipodystrophy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Lipase E, hormone sensitive type-related familial partial lipodystrophy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Gitelman syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Severe myopia, generalized joint laxity, short stature syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Keppen Lubinsky syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Interstitial lung disease due to surfactant protein C deficiency Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Autoimmune interstitial lung disease, arthritis syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Goldmann-Favre syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Elastin microfibril interfacer 1 related connective tissue disease Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier

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