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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

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 Some
Inbound Relationships Type Active Source Characteristic Refinability Group
8q24.3 microdeletion syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Duane retraction syndrome with congenital deafness Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
FTH1-related iron overload Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial chondromalacia of patella (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Primary failure of tooth eruption (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Isolated osteopoikilosis (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Self-limited familial neonatal-infantile epilepsy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Osteofibrous dysplasia (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
14q32 duplication syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Prothrombin G20210A mutation (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Arthrochalasia Ehlers-Danlos syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Otodental syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Self-limited familial infantile epilepsy Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Intellectual disability, macrocephaly, hypotonia, behavioural abnormalities syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Sorsby pseudoinflammatory fundus dystrophy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial hyperaldosteronism type 1 Is a False Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary distal onycholysis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Diaphyseal medullary stenosis with bone malignancy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Pumilio RNA binding family member 1-associated developmental disability, ataxia, seizure syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to increased adenosine deaminase activity (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Isolated focal non-epidermolytic palmoplantar keratoderma (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial gigantiform cementoma of jaw (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Birt Hogg Dubé syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Leri-Weill dyschondrosteosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Nievergelt's syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Neuroferritinopathy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
NLR family caspase recruitment domain-containing 4-related familial cold autoinflammatory syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant osteopetrosis type 1 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hecht syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Craniosynostosis, microretrognathia, severe intellectual disability syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Long QT syndrome type 9 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Long QT syndrome type 11 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Malignant hyperthermia caused by anesthetic (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial multinodular goiter syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 46 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Spinocerebellar ataxia type 45 (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Dystonia 28 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial hypocalciuric hypercalcaemia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Triopia Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Periodontal Ehlers-Danlos syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial articular hypermobility syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary well-differentiated neuroendocrine tumor of small intestine (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Activated PI3K-delta syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant hereditary arginine vasopressin resistance (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant hereditary arginine vasopressin deficiency (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Multiple endocrine neoplasia, type 2 Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Clark Baraitser syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Mitchell syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Pumilio RNA binding family member 1-related cerebellar ataxia (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Singleton-Merten syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Solute carrier family 40 member 1-related hemochromatosis (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Ferroportin disease Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial sleep-related hypermotor epilepsy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Full schwannomatosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Cardiac urogenital syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Keratitis fugax hereditaria Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Chloride voltage-gated channel 6-related childhood-onset progressive neurodegeneration, peripheral neuropathy syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Photoptarmosis Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Isolated asymmetric crying facies Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Asymmetric crying facies syndrome Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant combined immunodeficiency due to Aiolos deficiency (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
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 Some
Familial hyperaldosteronism Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant combined immunodeficiency due to ERBIN deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant combined immunodeficiency due to partial interleukin 6 cytokine family signal transducer deficiency (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
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 Some
Caspase recruitment domain family member 11-associated atopy with dominant interference of nuclear factor kappa-B signaling syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant hyperimmunoglobulin M syndrome due to AID deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant agammaglobulinaemia due to PU.1 deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant agammaglobulinaemia due to E47 transcription factor deficiency Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant combined immunodeficiency due to STAT5b mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Combined immunodeficiency due to RELA haploinsufficiency (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Familial juvenile hyperuricemic nephropathy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant combined variable immunodeficiency due to TWEAK mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Autosomal dominant combined variable immunodeficiency due to nuclear factor kappa B subunit 1 mutation (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
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 Some
Autosomal dominant combined variable immunodeficiency due to SEC61 translocon subunit alpha 1 mutation (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Hereditary transthyretin related amyloidosis (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation Is a True Autosomal dominant hereditary disorder Inferred relationship Some
Parkinsonism with polyneuropathy (disorder) Is a True Autosomal dominant hereditary disorder Inferred relationship Some

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