FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.21  |  FHIR Version n/a  User: [n/a]

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
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
Optic nerve edema, splenomegaly syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autism spectrum disorder due to AUTS2 deficiency est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Thrombocythemia with distal limb defect (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Gastric adenocarcinoma and proximal polyposis of stomach (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Drash syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
XTE syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
East Texas bleeding disorder (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Mandibular hypoplasia, deafness, progeroid syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
maladie de Charcot-Marie-Tooth autosomique dominante type 2Q est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
LMNA-related cardiocutaneous progeria syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Oligodontia and cancer predisposition syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Non-hypoproteinemic hypertrophic gastropathy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Rhabdoid tumour predisposition syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Maternal riboflavin deficiency est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hypoinsulinemic hypoglycemia and body hemihypertrophy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant rhegmatogenous retinal detachment (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Flat face, microstomia, ear anomaly syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Emery Nelson syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
PRKAR1B-related neurodegenerative dementia with intermediate filaments est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
PLCG2-associated antibody deficiency and immune dysregulation est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Piebald trait with neurologic defects syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Peripheral dysostosis (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
dystrophie rétinienne avec anomalies de la couche nucléaire interne et des cellules ganglionnaires est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Diffuse palmoplantar keratoderma with painful fissures est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant prognathism of mandible (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant primary microcephaly est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Fibroblast growth factor receptor 2-related bent bone dysplasia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant aplasia and myelodysplasia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Foveal hypoplasia with presenile cataract syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Focal palmoplantar keratoderma with joint keratoses (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Acroosteolysis, keloid-like lesions, premature ageing syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
May-Hegglin anomaly est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
NUDT15 deficiency est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Schwannomatosis est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary sensorimotor neuropathy with hyperelastic skin (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Sodium channelopathy-related small fibre neuropathy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Seborrhea-like dermatitis with psoriasiform elements (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Dystonia aphonia syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant Charcot-Marie-Tooth disease type 2O est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Familial episodic pain syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Peripheral neuropathy, myopathy, hoarseness, hearing loss syndrome est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
High bone mass osteogenesis imperfecta est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Multisystemic smooth muscle dysfunction syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Haemoglobinopathy Toms River est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Tremor, nystagmus, duodenal ulcer syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Extensor tendons of finger anomalies (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Gastrocutaneous syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
DNA2-related mitochondrial DNA deletion syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Macrocephaly, intellectual disability, autism syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Familial dementia British type (disorder) est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Progressive myoclonic epilepsy type 5 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
AGel amyloidosis est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Pancytopenia due to IKZF1 mutations est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Stickler syndrome type 3 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant secondary polycythemia (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Bleeding diathesis due to thromboxane synthesis deficiency est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Chronic respiratory distress with surfactant metabolism deficiency (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Cranio-cervical dystonia with laryngeal and upper limb involvement est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Adult-onset cervical dystonia DYT23 type (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
ADan amyloidosis est un(e) (attribut) False Autosomal dominant hereditary disorder Inferred relationship Some
Thin basement membrane disease est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary sensory and autonomic neuropathy type 7 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Perilipin 1 related familial partial lipodystrophy (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Lower motor neuron syndrome with late-adult onset (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Hypotrichosis and deafness syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Alpha-B crystallin-related late-onset myopathy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Antecubital pterygium syndrome est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Amyotrophic lateral sclerosis type 4 est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Huntington disease-like 1 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant epilepsy with auditory features (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant spastic ataxia type 1 (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant adult-onset proximal spinal muscular atrophy est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder) est un(e) (attribut) True Autosomal dominant hereditary disorder Inferred relationship Some

Page 1 of 11 Next End

This concept is not in any reference sets

Back to Start