716108004: Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \Finding of back\Finding of spinal region\Disorder of spinal region\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Finding of back\Finding of spinal region\Finding of spinal cord\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Finding of back\Disorder of back\Disorder of spinal region\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Finding of limb structure\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Finding of movement\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Finding of movement\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Finding of movement\Motor dysfunction\Paralysis\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Central nervous system finding\Finding of spinal cord\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Central nervous system finding\Disorder of the central nervous system\Spastic syndrome\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Central nervous system finding\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Central nervous system finding\Disorder of the central nervous system\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Macrocephaly\Congenital macrocephaly\Fryns macrocephaly
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fryns macrocephaly
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fryns macrocephaly
• \Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Fryns macrocephaly
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fryns macrocephaly
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Macrocephaly\Congenital macrocephaly\Fryns macrocephaly
• \Neurological finding\Motor nervous system finding\Motor dysfunction\Paralysis\Paralytic syndrome\...
• \Paralytic syndrome of both lower limbs\Paraplegia\...
• \Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Complete bilateral paralysis\Paraplegia\...
• \Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Fryns macrocephaly
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Degenerative disorder\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Disorder of body system\Neurological disorder\Chronic nervous system disorder\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Disorder of body system\Neurological disorder\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Disorder of body system\Neurological disorder\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spastic syndrome\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Degenerative disease of the central nervous system\Hereditary degenerative disease of central nervous system\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Disorder of extremity\Disorder of lower limb\Disorder of left lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Disorder of extremity\Disorder of lower limb\Disorder of right lower extremity\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fryns macrocephaly
• \Disease\Disorder of head\Congenital anomaly of head\Congenital macrocephaly\Fryns macrocephaly
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fryns macrocephaly
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Fryns macrocephaly
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\Fryns macrocephaly
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fryns macrocephaly
• \Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Movement disorder\Paralytic syndrome\Paralytic syndrome of both lower limbs\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Movement disorder\Paralytic syndrome\Complete bilateral paralysis\Paraplegia\Spastic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Disorder of back\Disorder of spinal region\Spinal cord disease\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Chronic disease\Chronic nervous system disorder\Chronic paraplegia\Hereditary spastic paraplegia\Autosomal recessive hereditary spastic paraplegia\Fryns macrocephaly
• \Disease\Developmental disorder\Developmental hereditary disorder\Fryns macrocephaly
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Fryns macrocephaly
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital macrocephaly\Fryns macrocephaly
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Fryns macrocephaly

Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3304762018	Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3304763011	Macrocephaly with spastic paraplegia and dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3304764017	Fryns macrocephaly	en	Synonym	Active	Case sensitive	SNOMED CT core
3304765016	A rare syndrome with features of multiple congenital anomalies with macrocephaly (of post-natal onset), large anterior fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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