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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
195344010 Autosomal dominant hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (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
2618831016 AD - Autosomal dominant en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4426451000241118 maladie héréditaire autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1220 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant hereditary disorder (disorder) Is a Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Dysplasia epiphysealis hemimelica Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Metachondromatosis Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Congenital contractural arachnodactyly Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Dominant drusen Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Osteomesopyknosis is a very rare benign bone disorder characterized by bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Marie Unna syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Mullerian aplasia Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Acrokeratosis verruciformis of Hopf (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary neurocutaneous angiomata (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Clinical manifestations of cardiac syncope, ventricular tachycardia, ventricular fibrillation, or sudden death in conjunction with a genetic mutation associated with Brugada Syndrome and/or a Brugada pattern ECG (spontaneous or provoked). Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
syndrome de Meretoja Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Carpotarsal osteochondromatosis is a very rare primary bone dysplasia disorder with characteristics of abnormal bone proliferation and osteochondromas in the upper and lower limbs. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant pseudoxanthoma elasticum (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Larsen syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
syndrome de Cayler Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hidrotic ectodermal dysplasia syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Roussy-Lévy syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Granular corneal dystrophy Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Marshall-Smith syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Alexander disease Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Distichiasis-lymphedema syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A rare, genetic, neurologic disease characterized by primary hyperaldosteronism presenting with early-onset, severe hypertension, hypokalemia and neurological manifestations (including seizures, severe hypotonia, spasticity, cerebral palsy and profound developmental delay/intellectual disability). Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia with characteristics of congenital bitemporal cutis aplasia. The bitemporal rarely unilateral hypoplastic scar-like lesions in FFDD, resembling forceps marks, are usually the only manifestations of FFDD1. Most patients usually have normal intelligence. Transmitted in an autosomal dominant manner with full penetrance. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia with characteristics of congenital bitemporal scar-like depressions with additional facial dysmorphic features. Cardiac and genital or urinary abnormalities have been rarely noted. Developmental delay, severe intellectual disability, behavioural problems, and learning difficulties may be observed. Transmitted in an autosomal dominant manner with variable expressivity and incomplete penetrance. Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Multiple fibrofolliculomas Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Tuberous sclerosis syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A primary glomerular disease characterized by proteinuria, type IV renal tubular acidosis, microscopic hematuria and hypertension that may lead to end-stage renal failure in the second to sixth decade of life. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A rare multiple congenital anomalies syndrome characterized by short stature, sparse and depigmented scalp hair, typical facial characteristics (broad eyebrows, especially the medial portion, broad nasal ridge and tip, underdeveloped nasal alae, long philtrum, thin upper lip vermilion, and protruding ears), and limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia). Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse symmetric ophthalmoparesis. Additional signs may include skeletal muscle weakness, cataracts, hearing loss, sensory axonal neuropathy, ataxia, parkinsonism, cardiomyopathy, hypogonadism and depression. It is usually less severe than autosomal recessive form. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary camptodactyly Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Albinism-deafness syndrome of Tietz (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Emberger syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Myhre syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Pseudohypoparathyroidism type I A Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Dentinogenesis imperfecta - Shield's type II Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A form of von Willebrand disease (VWD) characterised by a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF). Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary von Willebrand disease type 2B Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary von Willebrand disease type 2M Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Childhood-onset autosomal dominant optic atrophy Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary C1 esterase inhibitor deficiency - deficient factor Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Familial cold urticaria Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary lymphedema and yellow nails (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary lymphedema type I (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary lymphedema type II (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary sensory autonomic neuropathy type ID Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary sensory autonomic neuropathy type IE Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary sensory autonomic neuropathy type IA (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary sensory autonomic neuropathy type IC (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Achondroplasia Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Multiple endocrine neoplasia type 2A (disorder) Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hypodontia and nail dysgenesis Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Osteogenesis imperfecta type I (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Epidermolytic palmoplantar keratoderma of Vorner Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A rare genetic disease characterised by thickening of the skin on palms and soles restricted to areas of weight bearing and/or friction (focal, non-epidermolytic palmoplantar keratoderma) and oral and oesophageal leucokeratosis, associated with a very high lifetime risk of developing squamous cell carcinoma of the oesophagus. The skin lesions appear in childhood and can be complicated by fissuring and infection. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Kniest dysplasia Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
17q23.1-q23.2 duplication syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Progressive palmoplantar keratoderma of Greither Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
polykystose hépatique autosomique dominante Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
The more common type of Robinow syndrome characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Familial cutaneous collagenoma Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Juvenile polyposis syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Coralliform cataract (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A congenital malformation of the digits characterised by various degree of shortening of the distal phalanx of the thumb, either unilaterally or bilaterally. Great toes may be similarly affected. Inherited as an autosomal dominant trait. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A congenital malformation characterised by shortening of the middle phalanx of the fifth finger. Inherited as an autosomal dominant trait. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Crouzon disease is characterised by craniosynostosis and facial hypoplasia. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Saethre-Chotzen syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Familial spinal neurofibromatosis Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A rare genetic bone development disorder characterized by involvement of the clavicles and symmetrical generalized metaphyseal enchondromas particularly in the distal femur, proximal humerus, and bones of the wrists, hands, and feet. Lesions regress later in life with growth cartilage obliteration. Clinical examination is normal and the course of the disease is benign. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Stickler syndrome type 1 Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Stickler syndrome type 2 Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A rare genetic multi-system disorder characterised by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease. Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Dentinogenesis imperfecta Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Dentin dysplasia Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant sideroblastic anemia (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Polymorphous corneal dystrophy Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Aase syndrome Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Familial hypokalemic periodic paralysis Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Choroid plexus carcinoma Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hyperproinsulinemia Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant distal hereditary motor neuropathy (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2 Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant cerebellar ataxia type 2 Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Autosomal dominant Alzheimer disease due to mutation of amyloid precursor protein Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Mutilating keratoderma Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Overhydrated hereditary stomatocytosis (OHSt) is a disorder of red cell membrane permeability to monovalent cations and is characterized clinically by hemolytic anemia. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Dehydrated hereditary stomatocytosis (DHS) is a rare hemolytic anemia characterized by a decreased red cell osmotic fragility due to a defect in cation permeability, resulting in red cell dehydration and mild to moderate compensated hemolysis. Pseudohyperkalemia (loss of potassium ions from red cells on storage at room temperature) is sometimes observed. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Familial pseudohyperkalemia (FP) is an inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis. Is a False Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a hereditary cancer syndrome characterized by a predisposition to cutaneous and uterine leiomyomas and, in some families, to renal cell cancer. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage, a process termed chondrocalcinosis (CC). It often associates with acute synovitis and osteoarthritis (OA). Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
A rare genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients. Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some
Familial porencephaly (disorder) Is a True Autosomal dominant hereditary disorder (disorder) Inferred relationship Some

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