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11164009: Autosomal dominant hereditary disorder (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
195344010 Autosomal dominant hereditary disorder en Synonym Active Case insensitive SNOMED CT core
2618831016 AD - Autosomal dominant en Synonym Active Case sensitive SNOMED CT core
632967019 Autosomal dominant hereditary disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

1150 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant hereditary disorder Is a Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Overgrowth, macrocephaly, facial dysmorphism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant beta2-microglobulinic amyloidosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Dyschondrosteosis and nephritis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
EDICT syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Gingival fibromatosis with progressive deafness syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Thickened earlobe with conductive deafness syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial caudal dysgenesis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Palmoplantar keratoderma with deafness syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Parastremmatic dwarfism Is a True Autosomal dominant hereditary disorder Inferred relationship Some
PTEN hamartoma tumour syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Carney Stratakis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Glomerulopathy with fibronectin deposits 2 Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Familial acute necrotising encephalopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial multiple fibrofolliculoma Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Kozlowski spondylometaphyseal dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ramos Arroyo syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Stern Lubinsky Durrie syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Muscular dystrophy Selcen type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Multifocal pattern dystrophy simulating fundus flavimaculatus Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Multinodular goitre, cystic kidney, polydactyly syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Nasopalpebral lipoma coloboma syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to partial IRF8 deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Mendelian susceptibility to mycobacterial disease due to partial STAT1 deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Non-progressive cerebellar ataxia with intellectual disability Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Noonan syndrome-like disorder with loose anagen hair Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Polydactyly of index finger Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Polyvalvular heart disease syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Peripheral neuropathy with sensorineural hearing impairment syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ring dermoid of cornea Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Reticular dystrophy of retinal pigment epithelium Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Transient neonatal multiple acyl-CoA dehydrogenase deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Thoracolaryngopelvic dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Subepithelial mucinous corneal dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Sensorineural hearing loss, early greying, essential tremor syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant spastic paraplegia type 36 Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant spastic paraplegia type 4 Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Grant syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Sensorineural deafness with dilated cardiomyopathy syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Patterson Stevenson Fontaine syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Helicoid peripapillary chorioretinal degeneration Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary cerebral haemorrhage with amyloidosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial platelet syndrome with predisposition to acute myelogenous leukaemia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial partial lipodystrophy Kobberling type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Microspherophakia with metaphyseal dysplasia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
8q13 microdeletion syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Laminopathy type Decaudain Vigouroux Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Kleefstra syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Keratosis palmaris et plantaris with clinodactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hypoparathyroidism, deafness, renal disease syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hypomyelinating leucodystrophy with atrophy of basal ganglia and cerebellum Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hypertelorism Teebi type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial scaphocephaly syndrome McGillivray type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant osteopetrosis type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Nonspherocytic haemolytic anaemia due to deficiency of adenosinetriphosphatase Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Cryptomicrotia, brachydactyly, excess fingertip arch syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Congenital short costocoracoid ligament Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Temple Baraitser syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Atrial septal defect, atrioventricular conduction defect syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant omodysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial male-limited precocious puberty Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant striatal neurodegeneration Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant primary hypomagnesaemia with hypocalciuria Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Polydactyly of biphalangeal thumb Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial Scheuermann disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Butterfly-shaped pigmentary macular dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant myoglobinuria Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Genochondromatosis type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Infundibulopelvic stenosis multicystic kidney syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary hypercarotenaemia and vitamin A deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Isolated optic nerve hypoplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant tubulointerstitial kidney disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ptosis, strabismus, ectopic pupil syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spastic paraplegia with Paget disease of bone syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Scalp defect postaxial polydactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial isolated congenital asplenia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Intellectual disability, cataract, calcified pinna, myopathy syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Splenogonadal fusion, limb defect, micrognathia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Eng Strom syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Cyprus facial neuromusculoskeletal syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Czeizel Losonci syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant spastic paraplegia type 10 Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant spastic paraplegia type 6 Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Symphalangism with multiple anomalies of hands and feet Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Sillence syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly and preaxial hallux varus syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spastic paraplegia with precocious puberty syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant spastic paraplegia type 29 Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Camptobrachydactyly Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Bencze syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
OSLAM syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Myoclonus, cerebellar ataxia, deafness syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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