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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
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
A rare lysosomal storage disease characterized by widespread tissue buildup of glycolipids and oligosaccharides rich in fucose. Patients present with broad clinical characteristics such as intellectual disability, developmental delay associated with psychomotor regression and bone abnormalities, visceromegaly, hyperhidrosis, and dermatological abnormalities. 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
A rare disorder of pyrimidine metabolism with characteristics of a variable phenotype ranging from absence of symptoms to severe neurological involvement with developmental delay, intellectual disability, and seizures. Additional signs and symptoms may include hypotonia, microcephaly, ocular abnormalities (such as microphthalmia, nystagmus, and strabismus), and autistic behavior, among others. Analysis of urine typically shows high levels of uracil and thymine. Patients are at risk of suffering from severe toxicity after the administration of the anti-neoplastic agent 5-fluorouracil. 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 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 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 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 Is a True Autosomal recessive hereditary disorder Inferred relationship Some
déficit en 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-CoA mutase 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
déficit en 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
syndrome d'hyperimmunoglobulinémie E 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 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
Severe autosomal recessive intrahepatic cholestasis described in aboriginal children from northwestern Quebec. First manifestation as neonatal jaundice, progresses to periportal fibrosis and 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
A form of monogenic obesity with characteristics of severe early-onset obesity and marked hyperphagia. Patients with congenital leptin deficiency are severely hyperphagic from early infancy and, although birthweight is normal, they rapidly become obese during early childhood. An increased susceptibility to infections has also been reported in these infants and appears to be associated with reduced numbers of circulating CD4+ T cells, and impaired T cell proliferation and cytokine release. Absence of serum leptin is caused by homozygous frameshift or missense mutations in the ob gene (7q31.3) and is inherited as an autosomal recessive trait. Is a True Autosomal recessive hereditary disorder Inferred relationship Some
An anomaly of bile acid synthesis with characteristics of mild cholestatic liver disease, fat malabsorption and/or neurological disease. The clinical presentation of this defect varies. Infants present with severe fat and fat-soluble vitamin deficiencies, haematochezia and mild cholestasis, whereas adults present with various neurological disorders BAS defect type 4 is caused by a mutation in the AMACR gene (5p13.2-q11.1). Transmission is autosomal recessive. Is a True Autosomal recessive hereditary disorder Inferred relationship Some
Sensorineural deafness and male infertility caused by a deletion of genetic material on the long (q) arm of chromosome 15. Is a True Autosomal recessive hereditary disorder Inferred relationship Some
A genetic syndrome characterized by the absence of all four limbs. 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
Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome. 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 (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications. Is a True Autosomal recessive hereditary disorder Inferred relationship Some

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