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11164009: Autosomal dominant hereditary disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
19337016 Dominant hereditary disorder, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
195344010 Autosomal dominant hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
2618831016 AD - Autosomal dominant en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
632967019 Autosomal dominant hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1135 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant hereditary disorder est un(e) (attribut) Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Kozlowski spondylometaphyseal dysplasia est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Ramos Arroyo syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Stern Lubinsky Durrie syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Muscular dystrophy Selcen type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Multinodular goiter, cystic kidney, polydactyly syndrome (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
syndrome de lipomes naso-palpébraux-colobome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
ataxie cérébelleuse non progressive avec déficience intellectuelle est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Polydactyly of index finger (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome de la maladie cardiaque polyvalvulaire est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Ring dermoid of cornea (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
dystrophie réticulée de l'épithélium pigmentaire rétinien est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Thoracolaryngopelvic dysplasia est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Subepithelial mucinous corneal dystrophy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Sensorineural hearing loss, early graying, essential tremor syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant spastic paraplegia type 36 (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant spastic paraplegia type 4 (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Grant syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Sensorineural deafness with dilated cardiomyopathy syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Patterson Stevenson Fontaine syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Helicoid peripapillary chorioretinal degeneration (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary cerebral hemorrhage with amyloidosis (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
lipodystrophie partielle familiale type Köbberling est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
8q13 microdeletion syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Laminopathy type Decaudain Vigouroux (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Kleefstra syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Palmoplantar keratoderma with clinodactyly syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hypertelorism Teebi type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
scaphocéphalie familiale type McGillivray est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant osteopetrosis type 2 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Nonspherocytic hemolytic anemia due to deficiency of adenosinetriphosphatase (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Cryptomicrotia brachydactyly syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
raccourcissement congénital du ligament costo-coracoïde est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Temple Baraitser syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Atrial septal defect, atrioventricular conduction defect syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant omodysplasia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial male-limited precocious puberty (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant striatal neurodegeneration (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant primary hypomagnesemia with hypocalciuria (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Polydactyly of biphalangeal thumb (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial Scheuermann disease (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Butterfly-shaped pigmentary macular dystrophy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant myoglobinuria (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Genochondromatosis type 2 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Infundibulopelvic stenosis multicystic kidney syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary hypercarotenemia and vitamin A deficiency (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Isolated optic nerve hypoplasia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
néphropathie tubulo-intersitielle autosomique dominante est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome de ptosis-strabisme-pupilles ectopiques est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
syndrome d'alopécie circonscrite-polydactylie est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial isolated congenital asplenia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Short stature locking fingers syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Cyprus facial neuromusculoskeletal syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant spastic paraplegia type 10 (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant spastic paraplegia type 6 (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Symphalangism with multiple anomalies of hands and feet syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly and distal symphalangism syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant spastic paraplegia type 29 (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Camptobrachydactyly (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Hemifacial hyperplasia strabismus syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome de Banki est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Triphalangeal thumb and dislocation of patella syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Camptodactyly taurinuria syndrome (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Ehlers-Danlos and osteogenesis imperfecta syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Distal myopathy with posterior leg and anterior hand involvement (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Distal myopathy with early respiratory muscle involvement (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Carney complex (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Prion protein systemic amyloidosis (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Long thumb brachydactyly syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Polydactyly myopia syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spastic paraplegia, nephritis, deafness syndrome (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Microcephalus, lymphedema, chorioretinopathy syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
dysplasie ectodermique tricho-odonto-onychiale est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 40 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 38 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some

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