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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
2618831016 AD - Autosomal dominant en Synonym (core metadata concept) Active Entire term case sensitive (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

1135 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant hereditary disorder est un(e) (attribut) Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Autosomal dominant Charcot-Marie-Tooth disease type 2 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant cerebellar ataxia type 2 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 2 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Alzheimer disease due to mutation of presenilin 1 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Alzheimer disease due to mutation of amyloid precursor protein est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Mutilating keratoderma est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Overhydrated hereditary stomatocytosis (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Southeast Asian ovalocytosis (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Dehydrated hereditary stomatocytosis (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial pseudohyperkalemia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary leiomyomatosis and renal cell carcinoma (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial calcium pyrophosphate dihydrate crystal deposition disease est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Symphalangism Cushing type est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial porencephaly (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Rieger syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Diaphyseal dysplasia est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Childhood-onset benign chorea with striatal involvement est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
RERE-related neurodevelopmental syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
DDX41-related hematologic malignancy predisposition syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
SIX homeobox 2-related frontonasal dysplasia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary thrombocytopenia with early-onset myelofibrosis est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome de coussinets des phalanges-leuconychie-surdité neurosensorielle-hyperkératose palmoplantaire (trouble) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity onset diabetes of the young, type 2 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity onset diabetes of the young, type 1 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity-onset diabetes of the young, type 3 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity-onset diabetes of the young, type 5 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity-onset diabetes of the young, type 8 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity-onset diabetes of the young, type 10 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Maturity-onset diabetes of the young, type 11 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Pfeiffer's disease est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Myotonic dystrophy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Colobomatous macrophthalmia with microcornea syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial patent arterial duct est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
BENTA disease est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Gabriele-de Vries syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary paediatric Behçet-like disease est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Witteveen Kolk syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Integral membrane protein 2B related amyloidosis (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant thrombocytopenia with platelet secretion defect est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Martinique crinkled retinal pigment epitheliopathy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
atrophie musculaire, ataxie, rétinite pigmentaire et diabète sucré est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary antithrombin III deficiency (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Melorheostosis with osteopoikilosis est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Childhood-onset nemaline myopathy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
STAT3-related early-onset multisystem autoimmune disease est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial cavitary optic disc anomaly (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Cathepsin A-related arteriopathy, strokes, leucoencephalopathy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant amyotrophic lateral sclerosis type 1 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Short stature, advanced bone age, early-onset osteoarthritis syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Periodic fever, infantile enterocolitis, autoinflammatory syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Thrombomodulin-related bleeding disorder (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
AKT2-related familial partial lipodystrophy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant central core disease (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Amyotrophic lateral sclerosis type 3 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant congenital fibre-type disproportion myopathy due to SELENON mutation est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Amyotrophic lateral sclerosis type 8 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Amyotrophic lateral sclerosis type 9 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial congenital palsy of trochlear nerve (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Neuhauser Eichner Opitz syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Neurofibromatosis type 6 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Amyotrophic lateral sclerosis type 10 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant congenital fiber-type disproportion myopathy due to TPM3 mutation est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Distal arthrogryposis type 10 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 41 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 42 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 43 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant deafness with onychodystrophy syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Neurogenic scapuloperoneal syndrome Kaeser type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Polymicrogyria due to TUBB2B mutation est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Progressive myoclonic epilepsy type 7 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Long QT syndrome type 6 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperostosis cranialis interna (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Postural orthostatic tachycardia syndrome due to norepinephrine transporter deficiency est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Progressive scapulohumeroperoneal distal myopathy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
LAMA5-related multisystemic syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Intellectual disability, autism, speech apraxia, craniofacial dysmorphism syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant familial isolated hypoparathyroidism (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some

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