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363045008: Connective tissue hereditary disorder (disorder)

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

Descriptions:

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

146 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Connective tissue hereditary disorder (disorder) Is a Hereditary disease false Inferred relationship Some
Connective tissue hereditary disorder (disorder) Is a Disorder of connective tissue (disorder) true Inferred relationship Some
Connective tissue hereditary disorder (disorder) Is a Hereditary disorder by system false Inferred relationship Some
Connective tissue hereditary disorder (disorder) Finding site Connective tissue structure true Inferred relationship Some 1
Connective tissue hereditary disorder (disorder) Finding site Body system structure false Inferred relationship Some
Connective tissue hereditary disorder (disorder) Is a Hereditary disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Carpotarsal osteochondromatosis (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Inherited pseudoxanthoma elasticum (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Granular corneal dystrophy Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Genochondromatosis type 1 (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Shell teeth Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Generalized congenital lipodystrophy with myopathy (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
AKT2-related familial partial lipodystrophy Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Autosomal semi-dominant severe lipodystrophic laminopathy (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
CIDEC-related familial partial lipodystrophy Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
LIPE-related familial partial lipodystrophy Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Gitelman syndrome Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Severe myopia, generalized joint laxity, short stature syndrome Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Keppen Lubinsky syndrome (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Interstitial lung disease due to surfactant protein C deficiency (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Goldmann-Favre syndrome Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
EMILIN-1-related connective tissue disease Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Familial articular hypermobility syndrome (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Familial chilblain lupus erythematosus (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some

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