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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 Reference Sets
482180014 Connective tissue hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core Concept inactivation indicator reference set: Duplicate component (foundation metadata concept)
754824015 Connective tissue hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3038367019 Inherited disorder of connective tissue en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)

133 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
Autosomal dominant hypophosphatemic rickets Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Autosomal recessive hypophosphatemic bone disease Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Nail-patella syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Glucoaminophosphaturia syndrome with rickets Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Morquio syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Papillon-Lefèvre syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Fanconi syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Cherubism Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Hereditary nephrogenic diabetes insipidus Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Infantile nephropathic cystinosis Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Metabolic disease of collagen Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Hereditary edema of legs Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Hereditary tubulointerstitial disorder Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Farber's lipogranulomatosis Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Neurofibromatosis type 1 Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Familial Mediterranean fever Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Gouty tophus of tendon Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Familial interstitial nephritis Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Hypermobility syndrome Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Craniodiaphyseal dysplasia Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Mandibuloacral dysostosis Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Marfan's syndrome affecting skin Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant hypophosphataemic bone disease Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Autosomal recessive hypophosphatemic bone disease Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Cutis laxa, autosomal dominant Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Geroderma osteodysplastica (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Dysostosis multiplex group Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Lattice corneal dystrophy (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Glucoaminophosphaturia syndrome with rickets Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Pyle metaphyseal dysplasia Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Morquio syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Papillon-Lefèvre syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Freeman-Sheldon syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Cherubism Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Rhizomelic chondrodysplasia punctata syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Menkes kinky-hair syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Cutis laxa, autosomal recessive Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Franceschetti-Klein syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Acrodysostosis Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Acrocephalosyndactyly type V (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Benign autosomal dominant osteopetrosis Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Robinow syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Multiple congenital exostosis Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloenchondromatosis (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Whyte Hemingway carpal tarsal phalangeal osteolyses (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Ehlers-Danlos syndrome (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant epidermolysis bullosa simplex (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Cutaneous asthenia in dogs AND/OR cats Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Cleidocranial dysostosis Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Fleck corneal dystrophy (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Schnyder crystalline cornea dystrophy (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Bovine hereditary syndactyly Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Pachydermoperiostosis syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Radial aplasia-thrombocytopenia syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Fanconi's anemia Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Giacci familial neurogenic acroosteolysis (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Acrocephalosyndactyly type I Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Klippel-Trenaunay-Weber syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Duane-radial ray syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Severe achondrolasia with developmental delay and acanthosis nigricans Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Polyostotic fibrous dysplasia of bone Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Shwachman syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Tarsal-carpal coalition syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
3-M syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Congenital stromal corneal dystrophy (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Surfactant dysfunction Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Auriculo-condylar syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Acromicric dysplasia (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Brachydactyly syndrome type B (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Congenital dystrophia brevicollis (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Branchiooculofacial syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloepiphyseal dysplasia tarda Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloenchondrodysplasia with immune dysregulation Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Majeed syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Retinal detachment and occipital encephalocele Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Baller-Gerold syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Pulmonary interstitial glycogenosis Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Antley-Bixler syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Carpenter's syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Crouzon syndrome with acanthosis nigricans (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Cutis gyrata syndrome of Beare and Stevenson Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Marfan's syndrome Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Marden Walker syndrome Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Dermatosparaxis in cattle AND/OR sheep Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Atelosteogenesis Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Jackson-Weiss syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Macular corneal dystrophy Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Oto-onycho-peroneal syndrome Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Familial partial lipodystrophy type 2 (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Mirror hands and feet co-occurrent with nasal defect (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Tibial aplasia and ectrodactyly syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Familial avascular necrosis of head of femur (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Autosomal recessive distal osteolysis syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Chondrodysplasia punctata Toriello type (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Gnathodiaphyseal dysplasia syndrome (disorder) Is a True Connective tissue hereditary disorder (disorder) Inferred relationship Some
Spondyloocular syndrome (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some
Familial osteochondritis dissecans (disorder) Is a False Connective tissue hereditary disorder (disorder) Inferred relationship Some

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This concept is not in any reference sets

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