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

• SNOMED CT Concept\constatation clinique\...
• \constatation générale à propos des tissus mous\Spasticity\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \constatation à propos du système nerveux central\constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \constatation à propos du système nerveux central\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \constatation à propos l'encéphale\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Congenital microcephaly (disorder)\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \constatation à propos d'un muscle\constatation à propos du tonus musculaire\Increased muscle tone\Spasticity\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Musculoskeletal finding\Spasticity\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\affection musculaire\affection d'un muscle squelettique\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\affection de la tête\Disorder of brain (disorder)\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\trouble métabolique\déséquilibre hydroelectrolytique\Disorder of electrolytes\Sodium disorder\Hypernatremia\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\Disorder of soft tissue\affection d'un muscle squelettique\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\anomalie congénitale de l'encéphale\Congenital hypoplasia of brain\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\anomalie congénitale de l'encéphale\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
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	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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