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1899006: Autosomal 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
4277013 Autosomal hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
746648015 Autosomal hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
66691000077115 affection héréditaire autosomique fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3457 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal hereditary disorder Is a Hereditary disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Long QT syndrome type 4 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 5 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Some
Long QT syndrome type 2 (disorder) Is a False Autosomal hereditary disorder Inferred relationship Some
A rare disorder of ketone body transport characterised by recurrent episodes of ketoacidosis provoked by fasting or infections in the first years of life. The episodes are typically preceded by poor feeding and vomiting and are associated with dehydration, in severe cases also with decreased consciousness and insufficient respiratory drive. Hypoglycaemia is observed only infrequently. Patients with homozygous mutations tend to present at a younger age, have more profound ketoacidosis, and may show mild to moderate developmental delay in addition. Is a True Autosomal hereditary disorder Inferred relationship Some
A rare genetic hematologic disease characterized by decreased or undetectable serum L-ferritin with otherwise normal laboratory parameters. Clinical signs and symptoms include generalized seizures, atypical restless leg syndrome, mild neuropsychologic impairment, and progressive hair loss. Asymptomatic cases have also been reported. Is a True Autosomal hereditary disorder Inferred relationship Some
A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH. Is a True Autosomal hereditary disorder Inferred relationship Some
A rare mitochondrial myopathy characterized by motor developmental delay (in infancy), growth impairment and mostly proximal muscle weakness caused by a muscular dystrophy. Muscle biopsy presents myopathic abnormalities and decreased mtDNA content. Electromyography (EMG) shows a myopathic process and serum creatine kinase is increased. The disease is also characterized by early onset non-progressive cerebellar atrophy (particularly cerebellar vermis and hemispheres), corticospinal tract dysfunction, and global or partial cerebral atrophy on brain MRI. Additionally, some patients presented with cognitive deficiencies, skeletal abnormalities, tremors, and retinopathy. Is a True Autosomal hereditary disorder Inferred relationship Some
Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon). Is a True Autosomal hereditary disorder Inferred relationship Some
A rare systemic disease characterized by congenital muscle hypotonia and/or muscle atrophy that improves with age, proximal joint contractures (knee, hip, elbow), and hypermobility of distal joints. Additional features include soft, doughy skin, atrophic scarring, delayed motor development, and myopathic findings in muscle biopsy. Abnormal craniofacial features have been reported in some patients. Molecular testing is obligatory to confirm the diagnosis. Is a True Autosomal hereditary disorder Inferred relationship Some
A rare, inherited bleeding disorder characterized by defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2). Is a True Autosomal hereditary disorder Inferred relationship Some
Myosin storage myopathy (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Aicardi Goutieres syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Benign recurrent intrahepatic cholestasis Is a True Autosomal hereditary disorder Inferred relationship Some
Hypermobile Ehlers-Danlos syndrome (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
Vascular Ehlers-Danlos syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Autosomal hereditary arginine vasopressin resistance (disorder) Is a True Autosomal hereditary disorder Inferred relationship Some
A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years. Intermediate COL6-RD is caused by heterozygous or biallelic pathogenic variants (PVs) in the genes coding for the alpha chains of the extracellular matrix protein collagen VI (COL6A1, COL6A2, and COL6A3). Is a True Autosomal hereditary disorder Inferred relationship Some
Combined immunodeficiency due to IKZF2 mutation Is a True Autosomal hereditary disorder Inferred relationship Some
Hereditary factor I deficiency disease Is a True Autosomal hereditary disorder Inferred relationship Some
A rare congenital, distal arthrogryposis syndrome characterised by microstomia, whistling-face appearance, chin with V- or H- shaped crease, and prominent nasolabial folds; most patients present club foot and congenital joint contractures of the hands and feet. It is the most severe form of distal arthrogryposis. Is a True Autosomal hereditary disorder Inferred relationship Some
Familial hypercholesterolaemia - homozygous Is a True Autosomal hereditary disorder Inferred relationship Some
GRN-related frontotemporal dementia Is a True Autosomal hereditary disorder Inferred relationship Some
Schöpf-Schulz-Passarge syndrome Is a True Autosomal hereditary disorder Inferred relationship Some
Resistance to thyroid stimulating hormone syndrome Is a True Autosomal hereditary disorder Inferred relationship Some

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