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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
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

Problem/Diagnosis reference set

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