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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
19337016 Dominant hereditary disorder, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
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

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