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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
Non-hypoproteinemic hypertrophic gastropathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Rhabdoid tumor predisposition syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Maternal riboflavin deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Deficiency in anterior pituitary function, variable immunodeficiency syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hypoinsulinemic hypoglycemia and body hemihypertrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant rhegmatogenous retinal detachment Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Flat face, microstomia, ear anomaly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Emery Nelson syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Protein kinase cAMP-dependent type I regulatory subunit beta-related neurodegenerative dementia with intermediate filaments Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Piebald trait with neurologic defects syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Peripheral dysostosis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Diffuse palmoplantar keratoderma with painful fissures Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant prognathism of mandible Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant primary microcephaly Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Fibroblast growth factor receptor 2-related bent bone dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant aplasia and myelodysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Foveal hypoplasia with presenile cataract syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Focal palmoplantar keratoderma with joint keratoses Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Acroosteolysis, keloid-like lesions, premature aging syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
May-Hegglin anomaly Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Deficiency of nudix hydrolase 15 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Schwannomatosis Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary sensorimotor neuropathy with hyperelastic skin Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Sodium channelopathy-related small fiber neuropathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Seborrhea-like dermatitis with psoriasiform elements Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Dystonia aphonia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant Charcot-Marie-Tooth disease type 2O Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial episodic pain syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
High bone mass osteogenesis imperfecta Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Multisystemic smooth muscle dysfunction syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hemoglobinopathy Toms River Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Tremor, nystagmus, duodenal ulcer syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Extensor tendons of finger anomalies Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Gastrocutaneous syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
DNA replication helicase/nuclease 2-related mitochondrial deoxyribonucleic acid deletion syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Macrocephaly, intellectual disability, autism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial dementia British type Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Progressive myoclonic epilepsy type 5 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary gelsolin amyloidosis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Pancytopenia due to IKAROS family zinc finger 1 mutations Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Stickler syndrome type 3 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant secondary polycythemia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Bleeding diathesis due to thromboxane synthesis deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Chronic respiratory distress with surfactant metabolism deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Cranio-cervical dystonia with laryngeal and upper limb involvement Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Adult-onset cervical dystonia DYT23 type Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial dementia Danish type Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Thin basement membrane disease Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary sensory and autonomic neuropathy type 7 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Perilipin 1 related familial partial lipodystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Lower motor neuron syndrome with late-adult onset Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hypotrichosis and deafness syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
External auditory canal atresia, vertical talus, hypertelorism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Alpha-B crystallin-related late-onset myopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Antecubital pterygium syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Amyotrophic lateral sclerosis type 4 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Huntington disease-like 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant epilepsy with auditory features Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant spastic ataxia type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Autosomal dominant adult-onset proximal spinal muscular atrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Palmoplantar keratoderma, spastic paralysis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Aneurysm osteoarthritis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial isolated hyperparathyroidism Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Muenke syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Hereditary mixed polyposis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Huntington's chorea Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial porphyria cutanea tarda Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Familial benign pemphigus Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Osler hemorrhagic telangiectasia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Nail-patella syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Juvenile epithelial corneal dystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Axenfeld anomaly Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier
Dysplasia epiphysealis hemimelica Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier

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