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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

1208 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
Familial porencephaly (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Rieger syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Diaphyseal dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Childhood-onset benign chorea with striatal involvement Is a True Autosomal dominant hereditary disorder Inferred relationship Some
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
RERE-related neurodevelopmental syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
DDX41-related hematologic malignancy predisposition syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
SIX homeobox 2-related frontonasal dysplasia (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary thrombocytopenia with early-onset myelofibrosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity onset diabetes of the young, type 2 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity onset diabetes of the young, type 1 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity-onset diabetes of the young, type 3 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity-onset diabetes of the young, type 5 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity-onset diabetes of the young, type 8 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity-onset diabetes of the young, type 10 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity-onset diabetes of the young, type 11 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Myotonic dystrophy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Colobomatous macrophthalmia with microcornea syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial patent arterial duct Is a True Autosomal dominant hereditary disorder Inferred relationship Some
BENTA disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Gabriele-de Vries syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary paediatric Behçet-like disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Witteveen Kolk syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Integral membrane protein 2B related amyloidosis (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant thrombocytopenia with platelet secretion defect Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Martinique crinkled retinal pigment epitheliopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary antithrombin III deficiency (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Melorheostosis with osteopoikilosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Childhood-onset nemaline myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
STAT3-related early-onset multisystem autoimmune disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial cavitary optic disc anomaly (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant amyotrophic lateral sclerosis type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Short stature, advanced bone age, early-onset osteoarthritis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Thrombomodulin-related bleeding disorder (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
AKT2-related familial partial lipodystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant central core disease (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Amyotrophic lateral sclerosis type 3 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Amyotrophic lateral sclerosis type 8 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Amyotrophic lateral sclerosis type 9 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial congenital palsy of trochlear nerve (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Neuhauser Eichner Opitz syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Neurofibromatosis type 6 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Amyotrophic lateral sclerosis type 10 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant congenital fiber-type disproportion myopathy due to TPM3 mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Distal arthrogryposis type 10 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 41 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 42 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 43 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant deafness with onychodystrophy syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Polymicrogyria due to TUBB2B mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Progressive myoclonic epilepsy type 7 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Long QT syndrome type 6 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperostosis cranialis interna (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Progressive scapulohumeroperoneal distal myopathy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
LAMA5-related multisystemic syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant familial isolated hypoparathyroidism Is a False Autosomal dominant hereditary disorder Inferred relationship Some
QRICH1-related intellectual disability, chondrodysplasia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Keppen Lubinsky syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial chilblain lupus erythematosus (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Pierpont syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary malignant neuroendocrine neoplasm of small intestine Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant mitochondrial myopathy with exercise intolerance Is a True Autosomal dominant hereditary disorder Inferred relationship Some
KRT1-related diffuse nonepidermolytic keratoderma Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Interstitial lung disease due to surfactant protein C deficiency (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autoimmune interstitial lung disease, arthritis syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial multiple discoid fibroma Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepiphyseal dysplasia Stanescu type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
8q24.3 microdeletion syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some

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