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11164009: Autosomal dominant hereditary disorder (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

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 Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Optic nerve oedema, splenomegaly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autism spectrum disorder due to AUTS2 deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Thrombocythaemia with distal limb defect Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Gastric adenocarcinoma and proximal polyposis of stomach Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Drash syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
XTE syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinal muscular atrophy with lower extremity predominance Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
East Texas bleeding disorder Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2Q Is a False Autosomal dominant hereditary disorder Inferred relationship Some
LMNA-related cardiocutaneous progeria syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Oligodontia and cancer predisposition syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Non-hypoproteinaemic 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 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 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hypoinsulinemic hypoglycaemia and body hemihypertrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant rhegmatogenous retinal detachment Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Flat face, microstomia, ear anomaly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome 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 apnoea, 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 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 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 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 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 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
COL4A1-related familial vascular leucoencephalopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
KCNQ2-related neonatal epileptic encephalopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
May-Hegglin anomaly Is a False 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 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
Seborrhoea-like dermatitis with psoriasiform elements Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Dystonia aphonia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Huntington disease-like syndrome due to C9ORF72 expansions 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 SETD5 haploinsufficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome 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 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Tremor, nystagmus, duodenal ulcer syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Extensor tendons of finger anomalies 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 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
ABri amyloidosis Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Progressive myoclonic epilepsy type 5 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
AGel amyloidosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
NLRP12-associated hereditary periodic fever syndrome 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 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant secondary polycythaemia 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 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 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 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Perilipin 1 related familial partial lipodystrophy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Lower motor neuron syndrome with late-adult onset 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 SH2B1 deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome 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 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant epilepsy with auditory features Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant spastic ataxia type 1 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 diarrhoea due to guanylate cyclase 2C overactivity Is a True Autosomal dominant hereditary disorder Inferred relationship Some

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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