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85995004: Autosomal recessive 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
201251014 Recessive hereditary disorder (autosomal) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
201252019 Hereditary disorder trait (autosomal) en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
201253012 Autosomal recessive hereditary disorder en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
828165010 Autosomal recessive hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4671271000241119 maladie héréditaire récessive fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2100 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive hereditary disorder Is a Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Ateliotic dwarfism without insulinopenia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Kerasin thesaurismosis Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Galactosylceramide lipidosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Westphal-Strumpell syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Wilson's disease * Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Testicular tumor of adrenogenital syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Craniodiaphyseal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pancreatic enterokinase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Mandibuloacral dysostosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Testicular tumor of adrenogenital syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Laurence-Moon syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Tay-Sachs disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acatalasia Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Fukuyama congenital muscular dystrophy Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Walker-Warburg congenital muscular dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Muscle-eye-brain disease, congenital muscular dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
HNSHA due to glutathione synthetase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary methemoglobinemia, enzymatic type Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of AMP pyrophorylase Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Medium-chain acyl-coenzyme A dehydrogenase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
A rare inherited disorder of leucine metabolism characterised by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Alkaptonuria Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Adenylosuccinate lyase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Severe steroid 21-hydroxylase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive asexual dwarfism Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Iodotyrosine deiodination defect Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Primary hyperoxaluria (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary fructosuria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Beta-aminoisobutyric aciduria (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Arginase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cystathionine beta-synthase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
5-Oxoprolinase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Chorea acanthocytosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Maple syrup urine disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pyle metaphyseal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Methylene THF reductase deficiency AND homocystinuria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fructose-biphosphatase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Methylmalonyl-CoA mutase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Acetyl-CoA: acyltransferase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
HNSHA due to pyrimidine-5'-nucleotidase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glutamate-cysteine ligase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary factor X deficiency disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary acrodermatitis enteropathica Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Morquio syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lipid proteinosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non-dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations. Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Propionyl-CoA carboxylase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Glutathione synthase deficiency with 5-oxoprolinuria Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Familial C3B inhibitor deficiency syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Papillon-Lefèvre syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sulfite oxidase deficiency syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Argininosuccinate lyase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
5,10-Methylenetetrahydrofolate reductase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary factor XII deficiency disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mucopolysaccharidosis type VII (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cholesterol monooxygenase (side-chain cleaving) deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Dubin-Johnson syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Xeroderma pigmentosum Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Adenosine deaminase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Orotic aciduria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypervalinemia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Corticosterone 18-monooxygenase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
A rare inborn error of tyrosine metabolism characterised by hypertyrosinaemia with oculocutaneous manifestations and, in some cases, intellectual deficit. Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Phosphatidylcholine-sterol acyltransferase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Succinate-semialdehyde dehydrogenase deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary factor XI deficiency disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Testosterone 17-beta-dehydrogenase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
HNSHA due to glutathione reductase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
HNSHA due to glucose phosphate isomerase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Steroid 21-monooxygenase deficiency, simple virilizing type Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Congenital lactase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
3 beta-Hydroxysteroid dehydrogenase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Multiple sulphatase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
A rare oligosaccharidosis characterised by facial dysmorphism, progressive intellectual disability and psychomotor deterioration due to accumulation of glycoasparagines in tissues and body fluids. Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Arthrochalasia Ehlers-Danlos syndrome (disorder) Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Essential benign pentosuria Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Bardet-Biedl syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cohen syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Intestinal enteropeptidase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hyperammonemia, type III Is a True Autosomal recessive hereditary disorder Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acid phosphatase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Dihydropteridine reductase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Sphingomyelin/cholesterol lipidosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cutis laxa, autosomal recessive Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glutamate formiminotransferase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Moderate steroid 21-hydroxylase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Purine-nucleoside phosphorylase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Urocanate hydratase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Proline dehydrogenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Muscle phosphoglycerate mutase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
HNSHA due to diphosphoglycerate mutase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital hyperammonemia, type I Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Cholestanol storage disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glycine dehydrogenase (decarboxylating) deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Alstrom syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Porphobilinogen synthase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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