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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3304762018	Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3304763011	Macrocephaly with spastic paraplegia and dysmorphism syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3304764017	Fryns macrocephaly	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module

Expanded Value Set

This concept is not in any reference sets

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