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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
482180014 Connective tissue hereditary disorder en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character 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 Only initial character 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
5229101000241113 maladie héréditaire du tissu conjonctif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5229101000241113 maladie héréditaire du tissu conjonctif fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained 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 (core metadata concept)
Connective tissue hereditary disorder Is a Disorder of connective tissue true Inferred relationship Existential restriction modifier (core metadata concept)
Connective tissue hereditary disorder Is a Hereditary disorder by system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Connective tissue hereditary disorder Finding site Connective tissue structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Connective tissue hereditary disorder Finding site Body system structure false Inferred relationship Existential restriction modifier (core metadata concept)
Connective tissue hereditary disorder Is a Hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Inherited pseudoxanthoma elasticum (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Granular corneal dystrophy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Metaphyseal chondrodysplasia, McKusick type Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Genochondromatosis type 1 Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Shell teeth Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Generalized congenital lipodystrophy with myopathy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare familial partial lipodystrophy characterized by adult onset of distal lipoatrophy and severe insulin resistance in the liver and peripheral tissues, hyperinsulinemia, and diabetes mellitus. Acanthosis nigricans and hypertension have been reported in association. Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal semi-dominant severe lipodystrophic laminopathy (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare, genetic lipodystrophy characterised by abnormal subcutaneous fat distribution, resulting in preservation of visceral, neck and axillary fat and absence of lower limb and femoro gluteal subcutaneous fat. Additional clinical features are acanthosis nigricans, insulin-resistant type II diabetes mellitus, dyslipidemia, and hypertension, leading to pancreatitis, hepatomegaly and hepatic steatosis. Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
LIPE-related familial partial lipodystrophy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare syndrome characterised by hypokalaemic metabolic alkalosis in combination with significant hypomagnesaemia and low urinary calcium excretion. The disease presents mainly in adolescents and adults but also encountered in children, as early as in the neonatal period. Caused by biallelic inactivating mutations in the SLC12A3 gene encoding the thiazide-sensitive sodium-chloride cotransporter NCC expressed in the apical membrane of cells lining the distal convoluted tubule. More than 350 different NCC mutations throughout the whole protein have been identified. Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Severe myopia, generalized joint laxity, short stature syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Keppen Lubinsky syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Interstitial lung disease due to surfactant protein C deficiency (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic respiratory disease characterized by a variable clinical outcome ranging from a fatal respiratory distress syndrome in the neonatal period to chronic interstitial lung disease developing in infancy or childhood with chronic cough, rapid breathing, shortness of breath and recurrent pulmonary infections. Clinical manifestations of respiratory failure include grunting, intercostal retractions, nasal flaring, cyanosis, and progressive dyspnea. Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic systemic or rheumatologic disease characterized by interstitial lung disease (often with pulmonary hemorrhage) and inflammatory arthritis, associated with high-titer autoantibodies (including anti-nuclear and anti-neutrophil cytoplasmic antibodies, and rheumatoid factor). Patients present from infancy to adolescence with tachypnea, cough, hemoptysis, and/or joint pain. Some patients may also develop glomerular disease. Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Goldmann-Favre syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare hereditary disease with peripheral neuropathy characterized by distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility, and recurrent tendon ruptures. Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial articular hypermobility syndrome (disorder) Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial chilblain lupus erythematosus Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fibrosis, neurodegeneration, cerebral angiomatosis syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Lung disease, immunodeficiency, chromosome breakage syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)

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