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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

2088 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
Porphobilinogen synthase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ethanolaminosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Werdnig-Hoffmann disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Fucosidosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sarcosine dehydrogenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sitosterolemia with xanthomatosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mannosidosis Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cytochrome-c oxidase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Aminomethyltransferase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Histidine ammonia-lyase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Maroteaux-Lamy syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Proline dipeptidase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
I-cell disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary adrenal unresponsiveness to corticotropin Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Hydroxymethylglutaryl-CoA lyase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Isolated xanthine oxidase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Hereditary nonspherocytic hemolytic anemia due to pyruvate kinase deficiency (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Mucopolysaccharidosis, MPS-I Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial renal iminoglycinuria Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Classical phenylketonuria Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Dihydropyrimidine dehydrogenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sucrase-isomaltase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Gamma-glutamyl transpeptidase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive ocular albinism (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pancreatic triacylglycerol lipase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Familial hypokalemic alkalosis, Gullner type Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Wolman's disease Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Trehalase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Pyruvate carboxylase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Isovaleryl-CoA dehydrogenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Biotinidase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Sanfilippo syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Zellweger syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Wilson's disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Crigler-Najjar syndrome, type I Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Muscle AMP deaminase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Pseudohypoaldosteronism, type 1, recessive form Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cystinosis (disorder) 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 hypophosphatemic 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
Geroderma osteodysplastica (disorder) 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
Bovine hereditary syndactyly 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
Spondyloenchondromatosis (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Giacci familial neurogenic acroosteolysis (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Jervell and Lange-Nielson syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Propionic acidemia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Acetyl-CoA: acyltransferase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Porcine stress syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Familial acantholysis (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of hydroxymethylglutaryl-CoA lyase Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of histidine ammonia-lyase Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of methylmalonyl-coenzyme A mutase (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Homogentisate 1,2-dioxygenase deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Deficiency of proline dipeptidase Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Tyrosinemia type III (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neonatal pseudo-hydrocephalic progeroid syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ichthyosis linearis circumflexa Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Ataxia-telangiectasia syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Laron-type isolated somatotropin defect Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Job's syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive severe combined immunodeficiency disease (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Glycogen storage disease, type I Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Lipoprotein glomerulopathy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Peters plus syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Arterial tortuosity syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Essential pentosuria (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Ultraviolet sensitive syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
21-hydroxylase deficiency Is a False Autosomal recessive hereditary disorder Inferred relationship Some
2-hydroxyglutaric aciduria Is a False Autosomal recessive hereditary disorder Inferred relationship Some
North American Indian childhood cirrhosis Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Myopathy with deficiency of iron-sulfur cluster assembly enzyme (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Neutral lipid storage disease with myopathy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Myoclonic epilepsy myopathy sensory ataxia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive bulbar palsy with sensorineural deafness (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Interleukin-1 receptor-associated kinase 4 deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Epilepsy, ataxia, sensorineural deafness, and tubulopathy syndrome Is a False Autosomal recessive hereditary disorder Inferred relationship Some
Hyperphosphatasaemia with intellectual disability Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Autosomal recessive idiopathic familial dystonia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital leptin deficiency Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Alpha-methylacyl-CoA racemase deficiency disorder Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sensorineural deafness and male infertility Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Tetra-amelia syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Progressive myoclonus epilepsy with ataxia (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
3-M syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Early onset myopathy with fatal cardiomyopathy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Spondylocarpotarsal synostosis syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Persistent Müllerian duct syndrome Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Cold-induced sweating syndrome (disorder) Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Chylomicron retention disease Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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