11164009: Autosomal dominant hereditary disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder

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

Descriptions:

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
Dysplasia epiphysealis hemimelica	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Metachondromatosis (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Congenital contractural arachnodactyly	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Dominant drusen	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
A very rare benign bone disorder with characteristics of bone dysplasia manifested by patchy sclerosis of the axial skeleton and increased bone mineral content. The disease may be underdiagnosed due to confusion with autosomal dominant osteopetrosis. The condition is usually found incidentally on radiological examination and is very mild, sometimes accompanied by pain. Increased density of the vertebral plates, pelvis and occasionally of the upper femur have been reported, as well as kyphoscoliosis and femoral cysts.	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Marie Unna syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Mullerian aplasia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Acrokeratosis verruciformis of Hopf (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary neurocutaneous angiomata (disorder)	Is a	True	Autosomal dominant hereditary 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	Inferred relationship	Some
familliær amyloid polyneuropati, type V	Is a	False	Autosomal dominant hereditary 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	Inferred relationship	Some
Autosomal dominant pseudoxanthoma elasticum (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Larsen syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Caylers kardiofaciale syndrom	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hidrotic ectodermal dysplasia syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Roussy-Lévy syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay.	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Granular corneal dystrophy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Marshall-Smith syndrome	Is a	True	Autosomal dominant hereditary 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	Inferred relationship	Some
Alexander disease	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Distichiasis-lymphedema syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
A rare genetic neurologic disease with characteristics of 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). There is evidence the disease is caused by heterozygous mutation in the CACNA1D gene on chromosome 3p21.	Is a	True	Autosomal dominant hereditary 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	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	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Multiple fibrofolliculomas	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Tuberous sclerosis syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
A primary glomerular disease with characteristics of 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. Fibronectin glomerulopathy may present at different ages, although mostly in adolescence or early adulthood, with typical features of a nephrotic syndrome including hypertension. Clustering of the disease within families indicates a genetic origin. In 40% of families, the disease is caused by heterozygous mutations in the FN1 gene (2q34) encoding fibronectin. Whole-genome linkage analysis in a large pedigree showed another disease locus on 1q32, however no specific candidate genes has been identified so far. Segregation with disease appearance in successive generations is consistent with an autosomal dominant pattern of inheritance with age-related penetrance.	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Trichorhinophalangeal syndromes (TRPS) type 1 and 3 has characteristics of short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones. TRPS types 1 and 3 are variants of a single disease type 3 being at the severe end of the clinical spectrum, with very short stature and very severe brachydactyly. They can be distinguished from type 2 trichorhinophalangeal syndrome by the lack of intellectual deficit and exostoses. TRPS types 1 and 3 are linked to mutations in the TPRS1 gene localised to 8q24.12. Transmission is autosomal dominant.	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
A rare genetic neuro-ophthalmological disease with characteristics of 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	Inferred relationship	Some
Hereditary camptodactyly	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Albinism-deafness syndrome of Tietz (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Emberger syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Myhre syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Pseudohypoparathyroidism type I A	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Photomyoclonus, diabetes mellitus, deafness, nephropathy and cerebral dysfunction	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Dentinogenesis imperfecta - Shield's type II	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
A form of von Willebrand disease (VWD) with characteristics of a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF). The type 1 disease is considered to be the most common form of VWD, caused by mutations in the VWF gene (12p13.3). Transmitted in an autosomal dominant manner.	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary von Willebrand disease type 2B	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary von Willebrand disease type 2M	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Childhood-onset autosomal dominant optic atrophy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary C1 esterase inhibitor deficiency - deficient factor	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary C1 esterase inhibitor deficiency - dysfunctional factor	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial cold urticaria	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary lymphedema and yellow nails (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary lymphedema type I (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary lymphedema type II (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary sensory autonomic neuropathy type ID	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary sensory autonomic neuropathy type IE	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary sensory autonomic neuropathy type IA (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary sensory autonomic neuropathy type IC (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Achondroplasia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Multiple endocrine neoplasia type 2A (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hypodontia and nail dysgenesis	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Osteogenesis imperfecta type I (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Epidermolytic palmoplantar keratoderma of Vorner	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
A form of diffuse palmoplantar keratoderma that occurs between the ages of 5 and 15 and may be associated with the subsequent development of esophageal cancer.	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Kniest dysplasia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
17q23.1-q23.2 duplication syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Progressive palmoplantar keratoderma of Greither	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant polycystic liver disease	Is a	True	Autosomal dominant hereditary 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	Inferred relationship	Some
Familial cutaneous collagenoma	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Juvenile polyposis syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Coralliform cataract (disorder)	Is a	True	Autosomal dominant hereditary 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	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	Inferred relationship	Some
Disease with characteristics of craniosynostosis and facial hypoplasia. Craniosynostosis is variable but many sutures are usually involved. Facial anomalies include ocular hypertelorism, small beaked nose, proptosis, exophthalmos, hypoplastic maxilla and mandibular prognathism. Caused by mutations of the fibroblast growth factor receptor FGFR2 (10q25.3-q26) with 80% being located to the immunoglobulin (Ig)-like domain III (IgIII domain) of the extracellular region and an additional 20% of mutations being located in the IgI-IgII domains, transmembrane and tyrosine kinase regions. The disease is transmitted in an autosomal dominant manner with variable penetrance.	Is a	True	Autosomal dominant hereditary 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	Inferred relationship	Some
Saethre-Chotzen syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial spinal neurofibromatosis	Is a	False	Autosomal dominant hereditary 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	Inferred relationship	Some
Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Stickler syndrome type 1	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Stickler syndrome type 2	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Steinert myotonic dystrophy syndrome	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Dentinogenesis imperfecta	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Dentin dysplasia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant sideroblastic anemia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Polymorphous corneal dystrophy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Aase syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial hypokalemic periodic paralysis	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Choroid plexus carcinoma	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hyperproinsulinaemia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant distal hereditary motor neuropathy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant cerebellar ataxia type 2	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Alzheimer disease due to mutation of amyloid precursor protein	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Mutilating keratoderma	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder)	Is a	True	Autosomal dominant hereditary 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	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	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	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	True	Autosomal dominant hereditary 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	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	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	Inferred relationship	Some
A rare genetic cerebral malformation with characteristics of an intracerebral fluid-filled cyst or cavity with or without communication between the ventricle and subarachnoid space. Clinical manifestations depend on location and severity and may include hemiparesis, seizures, intellectual disability, and dystonia. Porencephaly may manifest before or after birth. The cysts or cavities can be located anywhere within the cerebral parenchyma and are typically lined by smooth walls and surrounded by an atrophic cortex. Mutations in the COL4A1 (13q34) and COL4A2 (13q34) genes have been identified in familial porencephaly and de novo cases. The pattern of inheritance for familial porencephaly is autosomal dominant.	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some

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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
1975041000005117	autosomal dominant hereditær sygdom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)