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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
Autosomal dominant hypophosphatemic rickets Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive hypophosphatemic bone disease Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Nail-patella syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Glucoaminophosphaturia syndrome with rickets Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Morquio syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Papillon-Lefèvre syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Fanconi syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Cherubism Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Hereditary nephrogenic diabetes insipidus Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Infantile nephropathic cystinosis Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Metabolic disease of collagen Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Hereditary edema of legs Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Hereditary tubulointerstitial disorder Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Farber's lipogranulomatosis Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Neurofibromatosis type 1 Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Familial Mediterranean fever Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Tophus of tendon co-occurrent and due to gout Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Familial interstitial nephritis Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Hypermobility syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Craniodiaphyseal dysplasia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Mandibuloacral dysostosis Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Marfan's syndrome affecting skin Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant hypophosphatemic bone disease Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive hypophosphatemic bone disease Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Cutis laxa, autosomal dominant Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Geroderma osteodysplastica Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Dysostosis multiplex group Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Lattice corneal dystrophy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Glucoaminophosphaturia syndrome with rickets Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Pyle metaphyseal dysplasia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Morquio syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Papillon-Lefèvre syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Freeman-Sheldon syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Cherubism Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Rhizomelic chondrodysplasia punctata syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Menkes kinky-hair syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Cutis laxa, autosomal recessive Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Franceschetti-Klein syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Acrodysostosis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Acrocephalosyndactyly type V Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Benign autosomal dominant osteopetrosis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Robinow syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Multiple congenital exostosis Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Spondyloenchondromatosis Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Whyte Hemingway carpal tarsal phalangeal osteolyses Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant epidermolysis bullosa simplex Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Cutaneous asthenia in dogs AND/OR cats Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Cleidocranial dysostosis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Fleck corneal dystrophy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Schnyder crystalline cornea dystrophy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Bovine hereditary syndactyly Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Pachydermoperiostosis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Radial aplasia-thrombocytopenia syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Fanconi's anemia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Giacci familial neurogenic acroosteolysis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Acrocephalosyndactyly type I Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Klippel-Trenaunay-Weber syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Duane-radial ray syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Severe achondrolasia with developmental delay and acanthosis nigricans Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Polyostotic fibrous dysplasia of bone Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Shwachman syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Tarsal-carpal coalition syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Dolichospondylic dysplasia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Congenital stromal corneal dystrophy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia with congenital joint dislocations Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Surfactant dysfunction Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Auriculo-condylar syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Acromicric dysplasia Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Brachydactyly syndrome type B Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Congenital dystrophia brevicollis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Branchiooculofacial syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia tarda Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Spondyloenchondrodysplasia with immune dysregulation Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and neutrophilic dermatosis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Retinal detachment and occipital encephalocele Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Baller-Gerold syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Pulmonary interstitial glycogenosis Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Antley-Bixler syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Carpenter's syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Crouzon syndrome with acanthosis nigricans Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Cutis gyrata syndrome of Beare and Stevenson Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Marfan's syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Marden Walker syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Dermatosparaxis in cattle AND/OR sheep Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Atelosteogenesis Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Jackson-Weiss syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Macular corneal dystrophy Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Oto-onycho-peroneal syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Familial partial lipodystrophy type 2 Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Mirror hands and feet co-occurrent with nasal defect Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Tibial aplasia and ectrodactyly syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Familial avascular necrosis of head of femur Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive distal osteolysis syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Chondrodysplasia punctata Toriello type Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Prominent glabella with microcephaly and hypogenitalism syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Gnathodiaphyseal dysplasia syndrome Is a True Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Spondyloocular syndrome Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier
Familial osteochondritis dissecans Is a False Connective tissue hereditary disorder Inferred relationship Existential restriction modifier

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