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85995004: Autosomal recessive hereditary disorder (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
142575014 Recessive hereditary disorder, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
142576010 Hereditary disorder trait, NOS en Synonym Inactive Only initial character case insensitive SNOMED CT core module
201251014 Recessive hereditary disorder (autosomal) en Synonym Active Entire term case insensitive SNOMED CT core module
201252019 Hereditary disorder trait (autosomal) en Synonym Active Entire term case insensitive SNOMED CT core module
201253012 Autosomal recessive hereditary disorder en Synonym Active Entire term case insensitive SNOMED CT core module
828165010 Autosomal recessive hereditary disorder (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1931 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 Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Ateliotic dwarfism without insulinopenia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Kerasin thesaurismosis Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Globoid cell leukodystrophy, early onset Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Westphal-Strumpell syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Wilson's disease * Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Testicular tumor of adrenogenital syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Craniodiaphyseal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital pancreatic enterokinase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mandibuloacral dysostosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Testicular tumor of adrenogenital syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Laurence-Moon syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Tay-Sachs disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Acatalasia Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Fukuyama congenital muscular dystrophy Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Walker-Warburg congenital muscular dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Muscle-eye-brain disease, congenital muscular dystrophy Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to aldolase A deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary methemoglobinemia, enzymatic type Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Deficiency of adenine phosphoribosyltransferase Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Familial erythrocytosis due to diphosphoglycerate mutase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Medium-chain acyl-coenzyme A dehydrogenase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Methylcrotonyl-coenzyme A carboxylase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Alkaptonuria Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Adenylosuccinate lyase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Biotin-(propionyl-coenzyme A-carboxylase) ligase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Severe steroid 21-hydroxylase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Autosomal recessive asexual dwarfism Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Iodotyrosine deiodination defect Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Primary hyperoxaluria Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Fructose-1,6-bisphosphate aldolase B deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Beta-aminoisobutyric aciduria Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Arginase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cystathionine beta-synthase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
5-Oxoprolinase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Chorea acanthocytosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Maple syrup urine disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Pyle metaphyseal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Methylene tetrahydrofolate methyltransferase reductase deficiency AND homocystinuria Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Fructose-biphosphatase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Methylmalonyl-CoA mutase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Glycogen storage disease Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Acetyl-CoA: acyltransferase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Glutamate-cysteine ligase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary factor X deficiency disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary acrodermatitis enteropathica Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Morquio syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Lipid proteinosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Sialidosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Propionyl-CoA carboxylase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Glutathione synthase deficiency with 5-oxoprolinuria Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Familial C3B inhibitor deficiency syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Papillon-Lefèvre syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Sulfite oxidase deficiency syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Argininosuccinate lyase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
5,10-Methylenetetrahydrofolate reductase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary factor XII deficiency disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Mucopolysaccharidosis type VII Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cholesterol monooxygenase (side-chain cleaving) deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Dubin-Johnson syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Xeroderma pigmentosum Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Adenosine deaminase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Orotic aciduria Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypervalinemia Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Corticosterone 18-monooxygenase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hypertyrosinemia, Richner-Hanhart type Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Phosphatidylcholine-sterol acyltransferase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Succinate-semialdehyde dehydrogenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary factor XI deficiency disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Testosterone 17-beta-dehydrogenase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Steroid 21-monooxygenase deficiency, simple virilizing type Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital lactase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
3 beta-Hydroxysteroid dehydrogenase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Multiple sulfatase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Aspartylglucosaminuria Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Ehlers-Danlos syndrome, procollagen proteinase deficient Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Essential benign pentosuria Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Bardet-Biedl syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cohen syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Intestinal enteropeptidase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hyperammonemia, type III Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Acid phosphatase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Dihydropteridine reductase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Sphingomyelin/cholesterol lipidosis Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cutis laxa, autosomal recessive Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Glutamate formiminotransferase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Moderate steroid 21-hydroxylase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Purine-nucleoside phosphorylase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Urocanate hydratase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Proline dehydrogenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Muscle phosphoglycerate mutase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Hereditary nonspherocytic hemolytic anemia due to diphosphoglycerate mutase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Congenital hyperammonemia, type I Is a False Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Cholestanol storage disease Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Glycine dehydrogenase (decarboxylating) deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Alstrom syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier
Porphobilinogen synthase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Existential restriction modifier

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