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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

1879 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive hereditary disorder est un(e) (attribut) Autosomal hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Testicular tumor of adrenogenital syndrome (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Jervell and Lange-Nielson syndrome (finding) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
déficit en glutamate-cystéine ligase (trouble) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary factor X deficiency disease est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
acrodermatite entéropathique héréditaire (trouble) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Morquio syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Lipid proteinosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
sialidose est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Propionyl-CoA carboxylase deficiency (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Glutathione synthase deficiency with 5-oxoprolinuria est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome familial de déficit en inhibiteurs du C3B est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de Papillon-Lefèvre (trouble) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Sulphite oxidase deficiency syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Argininosuccinate lyase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
5,10-Methylenetetrahydrofolate reductase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary factor XII deficiency disease est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mucopolysaccharidosis type VII (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cholesterol monooxygenase (side-chain cleaving) deficiency est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de Dubin-Johnson est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
xeroderma pigmentosum est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Adenosine deaminase deficiency est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Propionic acidemia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acetyl-CoA: acyltransferase deficiency (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Orotic aciduria (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hypervalinaemia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Corticosterone 18-monooxygenase deficiency (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Tyrosinaemia type 2 est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Phosphatidylcholine-sterol acyltransferase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Succinate-semialdehyde dehydrogenase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary factor XI deficiency disease (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Testosterone 17-beta-dehydrogenase deficiency (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to glutathione reductase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to glucose phosphate isomerase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Steroid 21-monooxygenase deficiency, simple virilising type est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Congenital lactase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
3 beta-Hydroxysteroid dehydrogenase deficiency (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
déficit multiple en sulfatases (trouble) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
aspartylglucosaminurie (trouble) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Craniodiaphyseal dysplasia est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ehlers-Danlos syndrome, procollagen proteinase deficient (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Essential benign pentosuria (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de Bardet-Biedl est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
syndrome de Cohen (trouble) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Intestinal enteropeptidase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hyperammonaemia, type III est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Acid phosphatase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
déficit en dihydroptéridine réductase (trouble) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Sphingomyelin/cholesterol lipidosis (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cutis laxa, autosomal recessive (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Glutamate formiminotransferase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Moderate steroid 21-hydroxylase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Porcine stress syndrome est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Familial acantholysis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Purine-nucleoside phosphorylase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Urocanate hydratase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Proline dehydrogenase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Muscle phosphoglycerate mutase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
HNSHA due to diphosphoglycerate mutase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital hyperammonemia, type I est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Cholestanol storage disease est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Glycine dehydrogenase (decarboxylating) deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Alstrom syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Porphobilinogen synthase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ethanolaminosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Werdnig-Hoffmann disease est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Fucosidosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Sarcosine dehydrogenase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of hydroxymethylglutaryl-CoA lyase est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of histidine ammonia-lyase est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of methylmalonyl-CoA mutase est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Homogentisate 1,2-dioxygenase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of proline dipeptidase est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Sitosterolemia with xanthomatosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mannosidosis est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Cytochrome-c oxidase deficiency est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Aminomethyltransferase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Histidine ammonia-lyase deficiency est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Maroteaux-Lamy syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Proline dipeptidase deficiency est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
I-cell disease est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary adrenal unresponsiveness to corticotropin est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital pancreatic enterokinase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hydroxymethylglutaryl-CoA lyase deficiency est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Isolated xanthine oxidase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Tyrosinemia type III (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Mucopolysaccharidosis, MPS-I est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
iminoglycinurie rénale familiale est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Classical phenylketonuria est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Neonatal pseudo-hydrocephalic progeroid syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Dihydropyrimidine dehydrogenase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Sucrase-isomaltase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Gamma-glutamyl transpeptidase deficiency (disorder) est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive ocular albinism est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Pancreatic triacylglycerol lipase deficiency est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Ichthyosis linearis circumflexa (disorder) est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some
Ataxia-telangiectasia syndrome est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
alcalose hypokaliémique familiale de type Gullner est un(e) (attribut) True Autosomal recessive hereditary disorder Inferred relationship Some
Wolman's disease est un(e) (attribut) False Autosomal recessive hereditary disorder Inferred relationship Some

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