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
Ateliotic dwarfism without insulinopenia (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Kerasin thesaurismosis	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Galactosylceramide lipidosis	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Westphal-Strumpell syndrome	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Wilson's disease *	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Testicular tumor of adrenogenital syndrome	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Craniodiaphyseal dysplasia	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Kongenit pankreatisk enterokinasemangel	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Mandibuloacral dysostosis	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Testicular tumor of adrenogenital syndrome	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Laurence-Moons syndrom	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Tay-Sachs disease	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
akatalasæmi	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Fukuyama congenital muscular dystrophy	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Walker-Warburg congenital muscular dystrophy	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Muscle-eye-brain disease, congenital muscular dystrophy	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
hereditær non-sfærocytisk hæmolytisk anæmi forårsaget af aldolase A-mangel	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hereditary nonspherocytic hemolytic anemia due to glutathione synthetase deficiency (disorder)	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hereditær methæmoglobinæmi, enzymatisk 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
An inherited disorder of leucine metabolism with characteristics of a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults. Patients have a variable clinical phenotype with the vast majority of patients being asymptomatic and a small subgroup displaying symptoms of an organic aciduria, usually in association with environmental triggering factors. This disease is due to mutations in the MCCC1 (3q27.1) or MCCC2 (5q12-q13) genes. Mutations in these genes lead to reduced or absent 3-MCC activity, thereby allowing the toxic byproducts of leucine processing to build up and cause clinical symptoms. Inherited autosomal recessively.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
alkaptonuri	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-mangel	Is a	False	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 fructosuria	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Beta-aminoisobutyric aciduria (disorder)	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
5-Oxoprolinase deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Chorea acanthocytosis syndrome (disorder)	Is a	True	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-biphosphatase 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
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
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
A lysosomal storage disease, belonging to the group of oligosaccharidosis or with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease with characteristics of gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II (see this term) the more severe, early onset form, with characteristics of progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.	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	False	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 (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Orotic aciduria	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Hypervalinemia	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Corticosterone 18-monooxygenase deficiency	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
An inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and in some cases intellectual deficit. Skin lesions occur in 80% of cases, ocular involvement in 75% of cases and neurologic findings and some degree of intellectual deficit in up to 60% of cases. Onset is variable but the ocular symptoms (redness, photophobia, excessive tearing and pain) usually develop in the first year of life. Cutaneous manifestations usually begin after the first year of life but may develop at the same time as the ocular symptoms. Caused by mutations in the TAT gene (16q22.1) encoding tyrosine aminotransferase (TAT). The elevated levels of tyrosine caused by TAT deficiency appear to result in deposition of tyrosine crystals leading to an inflammatory response and the oculocutaneous findings. Transmitted as an autosomal recessive trait.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Phosphatidylcholin-sterol-acyltransferasemangel	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Succinate-semialdehyde dehydrogenase deficiency (disorder)	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 virilizing 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
An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group. Clinical signs include slowly developing intellectual disability beginning with clumsiness, late speech, and hyperkinesia, mild facial dysmorphism, and slight kyphoscoliosis. Caused by mutations in gene AGU located on 4q34.3. Transmission is autosomal recessive.	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Arthrochalasia Ehlers-Danlos syndrome (disorder)	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Essentiel benign pentosuri	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
Hyperammonemia, 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 (disorder)	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
Purine-nucleoside phosphorylase deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Urocanate hydratase deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Proline dehydrogenase deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Muscle phosphoglycerate mutase deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
HNSHA due to diphosphoglycerate mutase deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Kongenit hyperammonæmi, type I	Is a	False	Autosomal recessive hereditary disorder	Inferred relationship	Some
Cholestanol storage disease	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Glycine dehydrogenase (decarboxylating) deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Alstrom syndrome	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some
Porphobilinogen synthase deficiency	Is a	True	Autosomal recessive hereditary disorder	Inferred relationship	Some

Page 1 of 17 Next End

This concept is not in any reference sets

Back to Start

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)