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

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Severe intellectual disability\Fatty acyl-CoA reductase 1 deficiency
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Fatty acyl-CoA reductase 1 deficiency
• \Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Fatty acyl-CoA reductase 1 deficiency
• \Central nervous system finding\Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Fatty acyl-CoA reductase 1 deficiency
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Fatty acyl-CoA reductase 1 deficiency
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Fatty acyl-CoA reductase 1 deficiency
• \Finding of brain\Seizure\Seizure disorder\Epilepsy\Fatty acyl-CoA reductase 1 deficiency
• \Finding of brain\Encephalopathy\Seizure disorder\Epilepsy\Fatty acyl-CoA reductase 1 deficiency
• \Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Fatty acyl-CoA reductase 1 deficiency
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Severe intellectual disability\Fatty acyl-CoA reductase 1 deficiency
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability\Fatty acyl-CoA reductase 1 deficiency
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Severe intellectual disability\Fatty acyl-CoA reductase 1 deficiency
• \General finding of observation of patient\Body measurement finding\...
• \Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Fatty acyl-CoA reductase 1 deficiency
• \Finding of head circumference\Microcephaly\Fatty acyl-CoA reductase 1 deficiency
• \Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Fatty acyl-CoA reductase 1 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Fatty acyl-CoA reductase 1 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Fatty acyl-CoA reductase 1 deficiency
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Fatty acyl-CoA reductase 1 deficiency
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Fatty acyl-CoA reductase 1 deficiency
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Fatty acyl-CoA reductase 1 deficiency
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Fatty acyl-CoA reductase 1 deficiency
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Fatty acyl-CoA reductase 1 deficiency
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Seizure disorder\Epilepsy\Fatty acyl-CoA reductase 1 deficiency
• \Disease\Disorder of head\Encephalopathy\Seizure disorder\Epilepsy\Fatty acyl-CoA reductase 1 deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Fatty acyl-CoA reductase 1 deficiency
• \Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Fatty acyl-CoA reductase 1 deficiency
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Fatty acyl-CoA reductase 1 deficiency
• \Disease\Congenital disease\Inborn error of metabolism\Disorder of peroxisomal function\Loss of single peroxisomal function\Fatty acyl-CoA reductase 1 deficiency
• \Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Fatty acyl-CoA reductase 1 deficiency
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Severe intellectual disability\Fatty acyl-CoA reductase 1 deficiency
• \Disease\Developmental disorder\Developmental hereditary disorder\Fatty acyl-CoA reductase 1 deficiency
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Fatty acyl-CoA reductase 1 deficiency
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Fatty acyl-CoA reductase 1 deficiency
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Fatty acyl-CoA reductase 1 deficiency

Status: current, Primitive. 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	Initial character case insensitive	SNOMED CT core
5100065016	FAR1 deficiency	en	Synonym	Active	Case sensitive	SNOMED CT core
5100066015	Fatty acyl-CoA reductase 1 deficiency	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
5100067012	PFCRD - peroxisomal fatty acyl-CoA reductase 1 disorder	en	Synonym	Active	Case sensitive	SNOMED CT core
5100068019	Fatty acyl-coenzyme A reductase 1 deficiency	en	Synonym	Active	Initial character case insensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

Back to Start