238066006: Loss of single peroxisomal function (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function

\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function

\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function

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

356848015 Loss of single peroxisomal function en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

626897019 Loss of single peroxisomal function (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6312131000241114 perte d'une fonction peroxysomale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6312141000241116 perte d'une fonction des peroxysomes fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Loss of single peroxisomal function	Is a	Disorder of peroxisomal function	true	Inferred relationship	Some
Loss of single peroxisomal function	Finding site	Body system structure	false	Inferred relationship	Some
Loss of single peroxisomal function	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Peroxisomal thiolase deficiency	Is a	True	Loss of single peroxisomal function	Inferred relationship	Some
Bifunctional peroxisomal enzyme deficiency	Is a	True	Loss of single peroxisomal function	Inferred relationship	Some
Glutaryl-CoA oxidase deficiency	Is a	True	Loss of single peroxisomal function	Inferred relationship	Some
Dihydroxycholestanoic acidemia and trihydroxycholestanoic acidemia	Is a	True	Loss of single peroxisomal function	Inferred relationship	Some
Isolated dihydroxyacetone phosphate acyltransferase deficiency	Is a	True	Loss of single peroxisomal function	Inferred relationship	Some
Isolated alkyldihydroxyacetone phosphate synthase deficiency	Is a	True	Loss of single peroxisomal function	Inferred relationship	Some
Adrenoleukodystrophy	Is a	True	Loss of single peroxisomal function	Inferred relationship	Some
Primary hyperoxaluria, type I	Is a	True	Loss of single peroxisomal function	Inferred relationship	Some
Acatalasemia	Is a	True	Loss of single peroxisomal function	Inferred relationship	Some
Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy.	Is a	True	Loss of single peroxisomal function	Inferred relationship	Some
CADDS is a rare, genetic, neurometabolic disease characterized by severe intrauterine growth retardation, failure to thrive, profound neonatal hypotonia, severe global development delay, elevated very long chain fatty acids in plasma, and neonatal cholestasis leading to hepatic failure and death. Other features include ocular abnormalities (e.g. blindness and cataracts), sensorineural deafness, seizures, and abnormal brain morphology (notably delayed CNS myelination and ventriculomegaly).	Is a	True	Loss of single peroxisomal function	Inferred relationship	Some
Acyl-CoA oxidase deficiency	Is a	True	Loss of single peroxisomal function	Inferred relationship	Some
A rare disorder of plasmalogen biosynthesis characterized by syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation and short stature, and spastic quadriparesis. Dysmorphic facial features may be present, including high-arched eyebrows, flattened nasal root, hypertelorism, and long and smooth philtrum. Rhizomelia is not part of the syndrome. Cerebellar atrophy, white matter abnormalities, and Dandy-Walker malformation have been described on brain imaging.	Is a	True	Loss of single peroxisomal function	Inferred relationship	Some

This concept is not in any reference sets