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11164009: Autosomal dominant hereditary disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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
2618831016 AD - Autosomal dominant en Synonym (core metadata concept) Active Entire term case sensitive (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

1135 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal dominant hereditary disorder est un(e) (attribut) Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Acrorenoocular syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Acromegaloid facial appearance syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Acropectorovertebral dysplasia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Doughnut lesion of calvaria and bone fragility syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Cardiac anomaly and heterotaxy syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Cardiospondylocarpofacial syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Acro-dermato-ungual-lacrimal-tooth syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Aniridia and absent patella syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Aniridia and intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Ankylosing vertebral hyperostosis with tylosis syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Aphalangy and syndactyly with microcephaly syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
macrothrombocytopénie autosomique dominant est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly and arterial hypertension syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly type A2 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly type A5 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Brachydactyly with syndactyly Zhao type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Cooks syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome coxo-podo-patellaire est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Craniofacial conodysplasia syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Craniosynostosis with facial dysmorphism and brachydactyly syndrome (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Craniosynostosis Boston type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Craniosynostosis Philadelphia type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Czech dysplasia metatarsal type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Cerebroretinal vasculopathy (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Cerebrooculonasal syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome vascular-like type (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Alopecia, psychomotor epilepsy, periodontal pyorrhea, intellectual disability syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
dysplasie phalango-épiphysaire en ailes d'anges est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome de Holt-Oram est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Heart-hand syndrome Slovenian type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Short fifth metacarpal insulin resistance syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Short tarsus with absence of lower eyelashes syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Dacryocystitis and osteopoikilosis syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Dermo-odonto dysplasia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Developmental malformation, deafness, dystonia syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial Alzheimer-like prion disease (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Aplasia of fibula and ectrodactyly syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Coloboma of macula with brachydactyly type B syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary sensory and autonomic neuropathy type 1B (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Blepharocheilodontic syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Blepharoptosis, myopia, ectopia lentis syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Branchiogenic deafness syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary vascular retinopathy (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary endotheliopathy, retinopathy, nephropathy, stroke syndrome (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Hip dysplasia Beukes type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial developmental dysphasia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hunter McAlpine craniosynostosis syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Huntington disease-like 2 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperinsulinism due to insulin receptor deficiency (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperinsulinism due to uncoupling protein 2 deficiency (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Microphthalmia with brain and digit anomaly (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Scalp, ear, nipple syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Schilbach Rott syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Rombo syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Blindness, scoliosis, arachnodactyly syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hyperuricemia, anemia, renal failure syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Limb mammary syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Lowry MacLean syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Lymphedema and cerebral arteriovenous anomaly syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Karsch Neugebauer syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Median nodule of upper lip (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Johnson neuroectodermal syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Isolated autosomal dominant hypomagnesemia Glaudemans type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Oculootoradial syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Odonto-tricho-ungual-digito-palmar syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Book syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Ballard syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Osteocraniostenosis (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome d'entéropathie et endocrinopathie auto-immunes-susceptibilité aux infections chroniques est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant beta2-microglobulinic amyloidosis (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Dyschondrosteosis and nephritis syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome de fibromatose gingivale-surdité est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Thickened earlobe with conductive deafness syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial caudal dysgenesis (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome de kératodermie palmoplantaire-surdité est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Parastremmatic dwarfism (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
syndrome tumoral hamartomateux lié à PTEN est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Paraganglioma and gastric stromal sarcoma syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Glomerulopathy with fibronectin deposits 2 (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
encéphalopathie nécrosante aigüe familiale est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial multiple fibrofolliculoma (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Kozlowski spondylometaphyseal dysplasia est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some

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