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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
17q11.2 microduplication syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Absence of fingerprints with congenital milia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Multiple epiphyseal dysplasia Beighton type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant muscular dystrophy with limb girdle distribution Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Tubular renal disease with cardiomyopathy syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ulna fibula ray defect and brachydactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Tricho-retino-dento-digital syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Trigonocephaly with broad thumb syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Triphalangeal thumb and polysyndactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Triphalangeal thumb with brachyectrodactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Haemochromatosis type 4 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Timothy syndrome type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Timothy syndrome type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Alport syndrome autosomal dominant Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Pseudohypoparathyroidism type 1C Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Acropectoral syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Acrorenoocular syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Acromegaloid facial appearance syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Acropectorovertebral dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Calvarial doughnut lesion with bone fragility syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Cardiac anomaly and heterotaxy syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Cardiospondylocarpofacial syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Aniridia and absent patella syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Aniridia and intellectual disability syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ankylosing vertebral hyperostosis with tylosis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Aphalangy and syndactyly with microcephaly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant macrothrombocytopenia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly and arterial hypertension syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly type A2 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly type A5 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly with syndactyly Zhao type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Brachymorphism with onychodysplasia and dysphalangism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Brachytelephalangy, facial dysmorphism, Kallmann syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Cooks syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Coxopodopatellar syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Craniofacial conodysplasia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Craniosynostosis with facial dysmorphism and brachydactyly syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Craniosynostosis Boston type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Craniosynostosis Philadelphia type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Czech dysplasia metatarsal type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Cerebroretinal vasculopathy Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Cerebrooculonasal syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome vascular-like type Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhoea, intellectual disability syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Angel-shaped phalangoepiphyseal dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Aniridia, ptosis, intellectual disability, familial obesity syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Holt-Oram syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Heart-hand syndrome Slovenian type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Short fifth metacarpal insulin resistance syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Dacryocystitis and osteopoikilosis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Dermo-odonto dysplasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Developmental malformation, deafness, dystonia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Diffuse palmoplantar keratoderma and acrocyanosis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial Alzheimer-like prion disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Fibular aplasia and ectrodactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperinsulinism due to HNF1A deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Coloboma of macula with brachydactyly type B syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary sensory and autonomic neuropathy type 1B Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Blepharocheilodontic syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Blepharoptosis, myopia, ectopia lentis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Branchiogenic deafness syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary vascular retinopathy Is a False Autosomal dominant hereditary disorder Inferred relationship Some
HERNS syndrome Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Hip dysplasia Beukes type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial developmental dysphasia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hunter McAlpine craniosynostosis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Huntington disease-like 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperinsulinism due to insulin receptor deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperinsulinism due to uncoupling protein 2 deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Microphthalmia with brain and digit anomaly Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Scalp, ear, nipple syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Schilbach Rott syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Rombo syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Blindness, scoliosis, arachnodactyly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperuricaemia, anaemia, renal failure syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Limb mammary syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Lowry MacLean syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Lymphoedema and cerebral arteriovenous anomaly syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Karsch Neugebauer syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Median nodule of upper lip Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Johnson neuroectodermal syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Isolated autosomal dominant hypomagnesaemia Glaudemans type Is a True Autosomal dominant hereditary disorder Inferred relationship Some
IVIC syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Odonto-tricho-ungual-digito-palmar syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Book syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ballard syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Guttmacher syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Osteocraniostenosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Osteosclerosis, developmental delay, craniosynostosis syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Overgrowth, macrocephaly, facial dysmorphism syndrome 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

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