Congenital hypoplasia of brain	Congenital microcephaly	Disorder of skeletal muscle	Hypernatremia	Multiple system malformation syndrome	Spasticity
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Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)
	Microcephalus, brain defect, spasticity, hypernatremia syndrome
	Franek Bocker Kahlen syndrome
	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.
	syndroom van microcefalie, hersendefect, spasticiteit en hypernatriëmie
	syndroom van Franek-Bocker-Kahlen Franek-Bocker-Kahlen-syndroom

Id	770655004
Status	Primitive

Associated morphology	Congenital smallness
Finding site	Head structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Hypoplasia
Finding site	Brain structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Has interpretation	Increased
Interprets	Muscle tone

Has interpretation	Below reference range
Interprets	Birth head circumference

Finding site

Skeletal muscle structure

DHD Diagnosis thesaurus reference set

ICD-10 complex map reference set

Target	G98
Rule	TRUE
Advice	ALWAYS G98 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified