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85995004: Autosomal recessive hereditary disorder (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
201251014 Recessive hereditary disorder (autosomal) en Synonym Active Case insensitive SNOMED CT core
201252019 Hereditary disorder trait (autosomal) en Synonym Active Case insensitive SNOMED CT core
201253012 Autosomal recessive hereditary disorder en Synonym Active Case insensitive SNOMED CT core
828165010 Autosomal recessive hereditary disorder (disorder) en Fully specified name Active Case insensitive SNOMED CT core

1928 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
Resistance to thyroid hormone due to mutation in thyroid hormone receptor beta Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Polyendocrine polyneuropathy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile multisystem neurologic, endocrine, pancreatic disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary methaemoglobinaemia, 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
Cystinosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive severe combined immunodeficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Pseudocholinesterase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive hypophosphataemic bone disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Transcobalamin II deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial chronic mucocutaneous candidiasis - recessive type Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Methylcrotonyl-CoA carboxylase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Geroderma osteodysplastica Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Propionyl-CoA carboxylase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Childhood hypophosphatasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Alpha-1 antitrypsin deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Essential benign fructosuria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glucocorticoid deficiency with achalasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Infantile hypophosphatasia 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-CoA-carboxylase) ligase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Mule foot deformity Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Jervell and Lange-Nielsen syndrome Is a True 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary fructose intolerance Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Beta-aminoisobutyric aciduria 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
Galactosylceramide lipidosis 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
Westphal-Strumpell syndrome Is a False 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-1,6-bisphosphatase 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
Wilson's disease * 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
Spondyloenchondromatosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Giacci familial neurogenic acroosteolysis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Testicular tumour of adrenogenital syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Jervell and Lange-Nielson syndrome 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 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 True 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, MPS-VII 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
Propionic acidaemia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acetyl-CoA: acyltransferase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Orotic aciduria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hypervalinaemia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Corticosterone 18-monooxygenase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Hypertyrosinaemia, Richner-Hanhart type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Phosphatidylcholine-sterol acyltransferase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Succinate-semialdehyde dehydrogenase deficiency 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 virilising 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 sulfatase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Aspartylglucosaminuria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Craniodiaphyseal dysplasia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome, procollagen proteinase deficient 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
Hyperammonaemia, 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

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Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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