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syndroom van letale hydranencefalie en hernia diaphragmatica (aandoening)
syndroom van letale hydranencefalie en hernia diaphragmatica
syndroom van letale hydranencefalie en middenrifbreuk
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.
Id1172705006
StatusPrimitive
Has interpretationboven referentiebereik
Interpretshoofdomtrek
Associated morphologybreukpoort
Finding sitestructuur van diafragma
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwezigheid
Finding sitestructuur van hemispherium cerebri
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyvergroting
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
SNOMED CT to Orphanet simple map480528
SNOMED CT to ICD-10 extended map
TargetQ04.3
RuleTRUE
AdviceALWAYS Q04.3 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified