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11164009: Autosomal dominant hereditary disorder (disorder)

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

Descriptions:

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

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 Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial porencephaly Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Rieger syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Diaphyseal dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Childhood-onset benign chorea with striatal involvement Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Diaphanous related formin 1 related sensorineural hearing loss, thrombocytopenia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
DEAD-box helicase 41-related hematologic malignancy predisposition syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
SIX homeobox 2-related frontonasal dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary thrombocytopenia with early-onset myelofibrosis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Maturity onset diabetes of the young, type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Maturity onset diabetes of the young, type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Maturity-onset diabetes of the young, type 3 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Maturity-onset diabetes of the young, type 5 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Maturity-onset diabetes of the young, type 8 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Maturity-onset diabetes of the young, type 10 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Maturity-onset diabetes of the young, type 11 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Pontine autosomal dominant microangiopathy with leukoencephalopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Myotonic dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Colobomatous macrophthalmia with microcornea syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial patent arterial duct Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
B-cell expansion with nuclear factor kappa light chain enhancer of activated B cells and T-cell anergy disease Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Gabriele-de Vries syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary pediatric Behçet-like disease Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Witteveen Kolk syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Integral membrane protein 2B related amyloidosis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant thrombocytopenia with platelet secretion defect Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Martinique crinkled retinal pigment epitheliopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary antithrombin III deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Melorheostosis with osteopoikilosis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Childhood-onset nemaline myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autoimmune lymphoproliferative syndrome due to cytotoxic T-lymphocyte associated protein 4 haploinsufficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Signal transducer and activator of transcription 3-related early-onset multisystem autoimmune disease Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial cavitary optic disc anomaly Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Cathepsin A-related arteriopathy, strokes, leukoencephalopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant amyotrophic lateral sclerosis type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, expressive aphasia, facial dysmorphism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Thrombomodulin-related bleeding disorder Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
AKT serine/threonine kinase 2-related familial partial lipodystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant central core disease Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Amyotrophic lateral sclerosis type 3 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant congenital fiber-type disproportion myopathy due to selenoprotein N mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Amyotrophic lateral sclerosis type 8 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Amyotrophic lateral sclerosis type 9 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial congenital palsy of trochlear nerve Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Neuhauser Eichner Opitz syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Neurofibromatosis type 6 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Amyotrophic lateral sclerosis type 10 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant congenital fiber-type disproportion myopathy due to actin alpha 1, skeletal muscle mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant congenital fiber-type disproportion myopathy due to tropomyosin 3 mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Distal arthrogryposis type 10 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 41 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 42 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spinocerebellar ataxia type 43 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant deafness with onychodystrophy syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Neurogenic scapuloperoneal syndrome Kaeser type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Polymicrogyria due to tubulin beta 2B class IIb mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Progressive myoclonic epilepsy type 7 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Long QT syndrome type 6 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hyperostosis cranialis interna Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Progressive scapulohumeroperoneal distal myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Laminin subunit alpha 5-related multisystemic syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant familial isolated hypoparathyroidism Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Glutamine rich 1-related intellectual disability, chondrodysplasia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Keppen Lubinsky syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial chilblain lupus erythematosus Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Pierpont syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary malignant neuroendocrine neoplasm of small intestine Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant mitochondrial myopathy with exercise intolerance Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Keratin 1-related diffuse nonepidermolytic palmoplantar keratoderma Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Interstitial lung disease due to surfactant protein C deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autoimmune interstitial lung disease, arthritis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial multiple discoid fibroma Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Spondyloepiphyseal dysplasia Stanescu type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
8q24.3 microdeletion syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier

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