770655004: Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)

• SNOMED CT Concept\Clinical finding\...
• \General finding of soft tissue\Spasticity\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Muscle finding\Muscle tone - finding\Hypertonia\Spasticity\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Muscle finding\Myopathy\Disorder of skeletal muscle\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Musculoskeletal finding\Spasticity\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disease\Myopathy\Disorder of skeletal muscle\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disease\Metabolic disease\Disorder of fluid AND/OR electrolyte\Disorder of electrolytes\Sodium disorder\Hypernatraemia\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Microcephalus, brain defect, spasticity, hypernatraemia syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatraemia syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3701882017	Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3701883010	Microcephalus, brain defect, spasticity, hypernatraemia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3701884016	Franek Bocker Kahlen syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3701885015	Microcephalus, brain defect, spasticity, hypernatremia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3701880013	A rare congenital genetic syndrome with a central nervous system malformation as a major feature. The disorder has characteristics of microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatremia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings is reported and there have been no further descriptions in the literature since 1986.	en	Definition	Active	Case sensitive	SNOMED CT core
3701881012	A rare congenital genetic syndrome with a central nervous system malformation as a major feature. The disorder has characteristics of microcephaly, hypertonia, developmental delay and cognitive impairment, swallowing difficulty, hypernatraemia, and hypoplasia of the frontal parts and fusion of the lateral ventricles on brain MRI. Only one familial case with three affected siblings is reported and there have been no further descriptions in the literature since 1986.	en	Definition	Active	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Queensland allied health indicator for intervention reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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