1237421000: Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Central nervous system finding\Finding of brain\Encephalopathy\Chronic brain syndrome\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Central nervous system finding\Finding of brain\Encephalopathy\Leukoencephalopathy\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Finding of brain\Encephalopathy\...
• \Chronic brain syndrome\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Leukoencephalopathy\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Finding of head region\Leukoencephalopathy\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disorder of head\Encephalopathy\Chronic brain syndrome\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disorder of head\Encephalopathy\Leukoencephalopathy\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\PYCR2-related microcephaly, progressive leucoencephalopathy
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic brain syndrome\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Chronic brain syndrome\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Leukoencephalopathy\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disease\Disorder of head\Encephalopathy\Chronic brain syndrome\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disease\Disorder of head\Encephalopathy\Leukoencephalopathy\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disease\Chronic disease\Chronic nervous system disorder\Chronic brain syndrome\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disease\Developmental disorder\Developmental hereditary disorder\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\PYCR2-related microcephaly, progressive leucoencephalopathy
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\PYCR2-related microcephaly, progressive leucoencephalopathy

Status: current, Primitive. Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5099084012	Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leucoencephalopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
5099085013	PYCR2-related microcephaly, progressive leucoencephalopathy	en	Synonym	Active	Case sensitive	SNOMED CT core
5099086014	Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
5099087017	Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy	en	Synonym	Active	Case insensitive	SNOMED CT core
5099088010	PYCR2-related microcephaly, progressive leukoencephalopathy	en	Synonym	Active	Case sensitive	SNOMED CT core
5099089019	A rare genetic syndromic intellectual disability disorder with characteristics of progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delay, with absent speech, axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down or upslanting palpebral fissures, malar hypoplasia, large malformed ears with over-folded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders.	en	Definition	Active	Case sensitive	SNOMED CT core

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