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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
195344010 Autosomal dominant hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (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
2618831016 AD - Autosomal dominant en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
195344010 Autosomal dominant hereditary disorder en Synonym (core metadata concept) Active 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
632967019 Autosomal dominant hereditary disorder (disorder) en Fully specified name Active Only initial character case insensitive (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
2618831016 AD - Autosomal dominant en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
4426451000241118 maladie héréditaire autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4426451000241118 maladie héréditaire autosomique dominante fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

1208 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 Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures. Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Duane retraction syndrome with congenital deafness Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Ferritin heavy chain 1-related iron overload (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial chondromalacia of patella (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Primary failure of tooth eruption (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal. Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Self-limited familial neonatal-infantile epilepsy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Osteofibrous dysplasia (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
14q32 duplication syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
MIRAGE syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Prothrombin G20210A mutation (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Arthrochalasia Ehlers-Danlos syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Otodental syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life. Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, with characteristics of retinal atrophy and retinal detachment leading to loss of central vision, then peripheral vision, and eventually blindness. Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial hyperaldosteronism type 1 Is a False Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary distal onycholysis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Diaphyseal medullary stenosis with bone malignancy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Isolated focal non-epidermolytic palmoplantar keratoderma (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial gigantiform cementoma of jaw Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Birt Hogg Dubé syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Leri-Weill dyschondrosteosis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Nievergelt's syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Neuroferritinopathy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant osteopetrosis type 1 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hecht syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis, microretrognathia, severe intellectual disability syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Long QT syndrome type 9 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Long QT syndrome type 11 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Malignant hyperthermia caused by anesthetic (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial multinodular goiter syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 46 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia type 45 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterized by a highly variable phenotype comprising ocular anomalies (congenital glaucoma, myopia, retinal detachment, and/or Axenfeld-Rieger anomaly), congenital hypothyroidism, hearing loss, microcephaly, dental defects, kidney anomalies, cerebrovascular anomalies, and distal limb anomalies. Dysmorphic facial features may include square face with prominent jaw, broad flat nasal bridge, short philtrum, and prominent ears. Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Dystonia 28 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial hypocalciuric hypercalcemia (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Triopia Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Periodontal Ehlers-Danlos syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial articular hypermobility syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary well-differentiated neuroendocrine tumor of small intestine (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Activated PI3K-delta syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant vasopressin resistance Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hereditary arginine vasopressin deficiency (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Multiple endocrine neoplasia, type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Clark Baraitser syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Mitchell syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Pumilio RNA binding family member 1-related cerebellar ataxia (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Singleton-Merten syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A form of rare hemochromatosis (HC) with characteristics of increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC. The disease is due to gain-of-function (GOF) mutations of the ferroportin gene (SLC40A1) on chromosome 2. These mutations cause an hepcidin-independent increase in cellular iron export with increased intestinal iron absorption and iron release from spleen macrophages. Transmission is autosomal dominant. Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare disorder of iron metabolism and transport characterized by iron retention in macrophages (particularly of the liver and spleen), with a clinical picture of mild anemia and elevated of serum ferritin levels. Ferroportin disease is distinct from hemochromatosis as it is not associated with high transferrin saturation or low hepcidin concentrations. Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial sleep-related hypermotor epilepsy Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Full schwannomatosis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Cardiac urogenital syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Keratitis fugax hereditaria Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Photoptarmosis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Congenital unilateral hypoplasia of depressor anguli oris (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Asymmetric crying facies syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant combined immunodeficiency due to Aiolos deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated RAC2 defect Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial hyperaldosteronism Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant combined immunodeficiency due to ERBIN deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant combined immunodeficiency due to partial interleukin 6 cytokine family signal transducer deficiency (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
A rare hyper-IgE syndrome characterized by early-onset moderate to severe atopic dermatitis and recurrent infections of variable severity including molluscum contagiosum, pneumonia, abscesses, bacteremia, or eczema herpeticum, among others. Other reported manifestations include asthma, food allergies, colitis, chronic diarrhea, lymphoma, and seizures, as well as dysmorphic facial features, such as prominent forehead, broad nose, and poor dentition. Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant hyperimmunoglobulin M syndrome due to AID deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant agammaglobulinemia due to PU.1 deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant agammaglobulinaemia due to E47 transcription factor deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant combined immunodeficiency due to STAT5b mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Familial juvenile hyperuricemic nephropathy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant combined variable immunodeficiency due to tumor necrosis factor-like weak inducer of apoptosis mutation (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant combined variable immunodeficiency due to NFKB1 mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant combined variable immunodeficiency due to interferon regulatory factor 2 binding protein 2 mutation (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant combined variable immunodeficiency due to SEC61A1 mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary ATTR amyloidosis Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)
Parkinsonism with polyneuropathy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Existential restriction modifier (core metadata concept)

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