Combined malformation of central nervous system and skeletal muscle	Congenital diaphragmatic hernia	Congenital macrocephaly	Genetic disease	Hydranencephaly	Multiple system malformation syndrome
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Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder)
	Lethal hydranencephaly, diaphragmatic hernia syndrome
	A rare genetic lethal multiple congenital anomalies syndrome with characteristics of hydranencephaly and diaphragmatic hernia along with macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.
	syndroom van letale hydranencefalie en hernia diaphragmatica
	syndroom van letale hydranencefalie en middenrifbreuk

Id	1172705006
Status	Primitive

Has interpretation	Above reference range
Interprets	Head circumference

Associated morphology	Hernial opening
Finding site	Diaphragm structure
Occurrence	Congenital
Pathological process	Pathological developmental process

Associated morphology	Hernia
Finding site	Abdomen
Occurrence	Congenital

Associated morphology	Absence
Finding site	Cerebral hemisphere structure
Occurrence	Congenital
Pathological process	Pathological developmental process

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

ICD-10 complex map reference set

Target	Q04.3
Rule	TRUE
Advice	ALWAYS Q04.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation	SNOMED CT source code to target map code correlation not specified