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
Non-hypoproteinemic hypertrophic gastropathy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Rhabdoid tumour predisposition syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Maternal riboflavin deficiency	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hypoinsulinemic hypoglycemia and body hemihypertrophy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant rhegmatogenous retinal detachment (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Flat face, microstomia, ear anomaly syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Emery Nelson syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
PRKAR1B-related neurodegenerative dementia with intermediate filaments	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
PLCG2-associated antibody deficiency and immune dysregulation	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Piebald trait with neurologic defects syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Peripheral dysostosis (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Diffuse palmoplantar keratoderma with painful fissures	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant prognathism of mandible (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant primary microcephaly	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant aplasia and myelodysplasia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Foveal hypoplasia with presenile cataract syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Focal palmoplantar keratoderma with joint keratoses (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Acroosteolysis, keloid-like lesions, premature ageing syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
May-Hegglin anomaly	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
NUDT15 deficiency	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Schwannomatosis	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary sensorimotor neuropathy with hyperelastic skin (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Sodium channelopathy-related small fibre neuropathy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Seborrhea-like dermatitis with psoriasiform elements (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Dystonia aphonia syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant Charcot-Marie-Tooth disease type 2O	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial episodic pain syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
High bone mass osteogenesis imperfecta	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Multisystemic smooth muscle dysfunction syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Haemoglobinopathy Toms River	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Tremor, nystagmus, duodenal ulcer syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Extensor tendons of finger anomalies (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Gastrocutaneous syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
DNA2-related mitochondrial DNA deletion syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Macrocephaly, intellectual disability, autism syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial dementia British type (disorder)	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Progressive myoclonic epilepsy type 5 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
AGel amyloidosis	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Pancytopenia due to IKZF1 mutations	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Stickler syndrome type 3 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant secondary polycythemia (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Bleeding diathesis due to thromboxane synthesis deficiency	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Chronic respiratory distress with surfactant metabolism deficiency (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Cranio-cervical dystonia with laryngeal and upper limb involvement	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Adult-onset cervical dystonia DYT23 type (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
ADan amyloidosis	Is a	False	Autosomal dominant hereditary disorder	Inferred relationship	Some
Thin basement membrane disease	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary sensory and autonomic neuropathy type 7 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Perilipin 1 related familial partial lipodystrophy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Lower motor neuron syndrome with late-adult onset (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hypotrichosis and deafness syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Alpha-B crystallin-related late-onset myopathy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Antecubital pterygium syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Amyotrophic lateral sclerosis type 4	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Huntington disease-like 1 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant epilepsy with auditory features (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant spastic ataxia type 1 (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Autosomal dominant adult-onset proximal spinal muscular atrophy	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Palmoplantar keratoderma, spastic paralysis syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Aneurysm osteoarthritis syndrome (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial isolated hyperparathyroidism (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Muenke syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Hereditary mixed polyposis syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Huntington's chorea	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial porphyria cutanea tarda	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Familial benign pemphigus	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Osler hemorrhagic telangiectasia syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Nail-patella syndrome	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Juvenile epithelial corneal dystrophy (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Axenfeld anomaly	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some
Dysplasia epiphysealis hemimelica (disorder)	Is a	True	Autosomal dominant hereditary disorder	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
19337016	Dominant hereditary disorder, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
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
2598921000052112	autosomalt dominant ärftlig sjukdom	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)