238061001: Neonatal adrenoleukodystrophy (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\Disorder of adrenal gland\...
• \Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Neurological lesion\Leucodystrophy\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\...
• \Leucodystrophy\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Hereditary degenerative disease of central nervous system\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\A group of autosomal recessive disorders affecting the formation of functional peroxisomes, with characteristics of sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment and is comprised of the phenotypic variants Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. Impaired metabolism results in the accumulation of very-long-chain fatty acids which damage developing neural cells. Accumulation of toxic bile acid intermediates damages the liver. The decreased synthesis of docosahexanoic acid (DHA) and ether phospholipids (plasmalogens) impairs cell membranes.\Neonatal adrenoleukodystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Genetic disease\Hereditary disease\Sex-linked hereditary disorder\X-linked hereditary disease\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\A group of autosomal recessive disorders affecting the formation of functional peroxisomes, with characteristics of sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment and is comprised of the phenotypic variants Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. Impaired metabolism results in the accumulation of very-long-chain fatty acids which damage developing neural cells. Accumulation of toxic bile acid intermediates damages the liver. The decreased synthesis of docosahexanoic acid (DHA) and ether phospholipids (plasmalogens) impairs cell membranes.\Neonatal adrenoleukodystrophy
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\A group of autosomal recessive disorders affecting the formation of functional peroxisomes, with characteristics of sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment and is comprised of the phenotypic variants Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. Impaired metabolism results in the accumulation of very-long-chain fatty acids which damage developing neural cells. Accumulation of toxic bile acid intermediates damages the liver. The decreased synthesis of docosahexanoic acid (DHA) and ether phospholipids (plasmalogens) impairs cell membranes.\Neonatal adrenoleukodystrophy
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Leucodystrophy\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Leucodystrophy\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Leucodystrophy\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Hypoadrenalism\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Disorder of adrenal gland\Disorder of adrenal cortex (disorder)\Adrenal cortical hypofunction (disorder)\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\A group of autosomal recessive disorders affecting the formation of functional peroxisomes, with characteristics of sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment and is comprised of the phenotypic variants Zellweger syndrome, neonatal adrenoleukodystrophy and infantile Refsum disease. The mutations found in 90% of PBD-ZSS patients are in the PEX1, PEX6, PEX10, PEX12 or PEX26 genes. Impaired metabolism results in the accumulation of very-long-chain fatty acids which damage developing neural cells. Accumulation of toxic bile acid intermediates damages the liver. The decreased synthesis of docosahexanoic acid (DHA) and ether phospholipids (plasmalogens) impairs cell membranes.\Neonatal adrenoleukodystrophy
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Adrenoleukodystrophy\Neonatal adrenoleukodystrophy

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
356843012	Neonatal adrenoleucodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3035476014	Neonatal adrenoleukodystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4637152014	Neonatal adrenoleukodystrophy (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
896151000172114	adrénoleucodystrophie néonatale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
960521000172115	NALD - neonatal adrenoleukodystrophy	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3430711001000117	Adrenoleukodystrophie, neonatale Form	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

Back to Start