1237619001: Fatty acyl-coenzyme A reductase 1 deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Head finding (finding)\Finding of brain\Seizure\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Severe mental retardation (I.Q. 20-34)\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Severe mental retardation (I.Q. 20-34)\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Severe mental retardation (I.Q. 20-34)\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Severe mental retardation (I.Q. 20-34)\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function (disorder)\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function (disorder)\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Inherited metabolic disorder of nervous system\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain\Seizure disorder\Epilepsy\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function (disorder)\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Severe mental retardation (I.Q. 20-34)\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Disease\Developmental disorder (disorder)\Developmental delay\Global developmental delay\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Fatty acyl-coenzyme A reductase 1 deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5100063011	Fatty acyl-coenzyme A reductase 1 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5100065016	FAR1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5100066015	Fatty acyl-CoA reductase 1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5100067012	PFCRD - peroxisomal fatty acyl-CoA reductase 1 disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5100068019	Fatty acyl-coenzyme A reductase 1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5400315017	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400316016	A rare disorder of plasmalogen biosynthesis characterised 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5100063011	Fatty acyl-coenzyme A reductase 1 deficiency (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5100065016	FAR1 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5100066015	Fatty acyl-CoA reductase 1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5100067012	PFCRD - peroxisomal fatty acyl-CoA reductase 1 disorder	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5100068019	Fatty acyl-coenzyme A reductase 1 deficiency	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5100069010	A rare disorder of plasmalogen biosynthesis with characteristics of syndromic severe intellectual disability with congenital cataracts, early-onset epilepsy, microcephaly, global developmental delay, growth retardation, 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400315017	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400316016	A rare disorder of plasmalogen biosynthesis characterised 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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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