85995004: Autosomal recessive hereditary disorder (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder

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

Descriptions:

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 an extremely rare lysosomal storage disorder with characteristics of a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.	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 (disorder)	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
Isoleret xanthinoxidasemangel	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 (disorder)	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 recessiv svær kombineret immundefekt	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
pseudo-kolinesterasemangel	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
Hydroxymetylglutaryl-CoA-lyasemangel	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
Prolindipeptidasemangel	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
hyper-IgE-syndrom	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
A genetic transmission deafness syndrome. The profound congenital deafness is associated with a complete absence of inner ear structures (Michel aplasia) microtia type I with small auricle and narrow external auditory canal and microdontia with widely spaced teeth. Linkage analysis followed by sequencing of candidate genes led to identification of three different homozygous mutations in the FGF3 gene (11q13). Transmission is autosomal recessive.	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
An autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some

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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
2011611000005111	autosomal recessiv hereditær sygdom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)