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

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \General finding of soft tissue\Spasticity\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Muscle finding\Finding of muscle tone (finding)\Increased muscle tone\Spasticity\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Muscle finding\Disorder of muscle\Disorder of skeletal muscle\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Musculoskeletal finding\Spasticity\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Disorder of muscle\Disorder of skeletal muscle\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Metabolic disease\Disorder of fluid AND/OR electrolyte\Disorder of electrolytes\Sodium disorder\Hypernatremia\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Disorder of soft tissue\Disorder of skeletal muscle\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701883010	Microcephalus, brain defect, spasticity, hypernatraemia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701884016	Franek Bocker Kahlen syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3701885015	Microcephalus, brain defect, spasticity, hypernatremia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404858017	Microcephaly-brain defect-spasticity-hypernatremia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterized by 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. There have been no further descriptions in the literature since 1986.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404859013	Microcephaly-brain defect-spasticity-hypernatraemia syndrome is a rare congenital genetic syndrome with a central nervous system malformation as a major feature characterised by 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. There have been no further descriptions in the literature since 1986.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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