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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
19337016 Dominant hereditary disorder, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
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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