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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
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 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

142 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Connective tissue hereditary disorder est un(e) (attribut) affection du tissu conjonctif true Inferred relationship Some
Connective tissue hereditary disorder est un(e) (attribut) Hereditary disorder by system false Inferred relationship Some
Connective tissue hereditary disorder localisation d'une constatation (attribut) Connective tissue structure true Inferred relationship Some 1
Connective tissue hereditary disorder localisation d'une constatation (attribut) structure d'un système corporel false Inferred relationship Some
Connective tissue hereditary disorder est un(e) (attribut) maladie héréditaire false Inferred relationship Some
Connective tissue hereditary disorder est un(e) (attribut) maladie héréditaire true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Ehlers-Danlos syndrome classic type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome with periventricular heterotopia (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome cardiac valvular type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic and deafness type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome musculocontractural type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Ehlers-Danlos and osteogenesis imperfecta syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
syndrome d'Ehlers-Danlos type progéroïde est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome kyphoscoliotic type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome vascular-like type (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Brittle cornea syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome spondylocheirodysplastic type est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Autosomal systemic lupus erythematosus (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
syndrome neurodégénératif sévère avec lipodystrophie est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Epidermolysis bullosa simplex due to exophilin 5 deficiency (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Epidermolysis bullosa simplex due to BP230 deficiency (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Familial angiolipomatosis est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
syndrome d'Ehlers-Danlos par déficit en tenascin-X est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Leydig cell agenesis (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Karyomegalic interstitial nephritis (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Extensor tendons of finger anomalies (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Chronic respiratory distress with surfactant metabolism deficiency (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Inherited cutis laxa est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Perilipin 1 related familial partial lipodystrophy (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Aneurysm osteoarthritis syndrome (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Hereditary vitreoretinopathy est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Dysplasia epiphysealis hemimelica est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Metachondromatosis est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Meretoja syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Gelatinous droplike corneal dystrophy (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Carpotarsal osteochondromatosis (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Inherited pseudoxanthoma elasticum (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Granular corneal dystrophy est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Metaphyseal chondrodysplasia, McKusick type est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Genochondromatosis type 1 (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Shell teeth est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Generalized congenital lipodystrophy with myopathy (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
AKT2-related familial partial lipodystrophy est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Autosomal semi-dominant severe lipodystrophic laminopathy (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
CIDEC-related familial partial lipodystrophy est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
LIPE-related familial partial lipodystrophy est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Gitelman syndrome est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Severe myopia, generalized joint laxity, short stature syndrome est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Keppen Lubinsky syndrome (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Interstitial lung disease due to surfactant protein C deficiency (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Autoimmune interstitial lung disease, arthritis syndrome (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Severe early-onset pulmonary alveolar proteinosis due to methionyl-transfer ribonucleic acid synthetase 1 deficiency (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Goldmann-Favre syndrome est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
rachitisme hypophosphatémique autosomique dominant est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Autosomal recessive hypophosphatemic bone disease est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Nail-patella syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Glucoaminophosphaturia syndrome with rickets est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Morquio syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
syndrome de Papillon-Lefèvre (trouble) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Fanconi syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Cherubism (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Hereditary nephrogenic diabetes insipidus est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Infantile nephropathic cystinosis est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Metabolic disease of collagen est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Hereditary edema of legs est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Hereditary tubulointerstitial disorder est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Farber's lipogranulomatosis est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Neurofibromatosis type 1 est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Familial Mediterranean fever est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
tophus goutteux d'un tendon est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Familial interstitial nephritis est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Hypermobility syndrome est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Craniodiaphyseal dysplasia est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Mandibuloacral dysostosis est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Marfan's syndrome affecting skin est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Autosomal dominant hypophosphataemic bone disease est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Autosomal recessive hypophosphatemic bone disease est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Cutis laxa, autosomal dominant est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Geroderma osteodysplastica est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Dysostosis multiplex group est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Lattice corneal dystrophy est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Glucoaminophosphaturia syndrome with rickets est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Pyle metaphyseal dysplasia est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Morquio syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
syndrome de Papillon-Lefèvre (trouble) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
syndrome de Freeman-Sheldon (trouble) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Cherubism (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
chondrodysplasie ponctuée rhizomélique est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Menkes kinky-hair syndrome (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Cutis laxa, autosomal recessive (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Franceschetti-Klein syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Acrodysostosis est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
acro-céphalo-syndactylie de type V est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Benign autosomal dominant osteopetrosis est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Robinow syndrome est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Multiple congenital exostosis est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Spondyloenchondromatosis (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome (disorder) est un(e) (attribut) True Connective tissue hereditary disorder Inferred relationship Some
Autosomal dominant epidermolysis bullosa simplex (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some
Cutaneous asthenia in dogs AND/OR cats (disorder) est un(e) (attribut) False Connective tissue hereditary disorder Inferred relationship Some

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