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syndroom van anoftalmie en pulmonale hypoplasie (aandoening)
syndroom van anoftalmie en pulmonale hypoplasie
syndroom van Matthew-Wood
MCOPS9
syndromale microftalmie type 9
Matthew Wood syndrome
Syndromic microphthalmia type 9
Anophthalmia with pulmonary hypoplasia syndrome
A rare, genetic congenital malformation syndrome characterized by bilateral anophthalmia (or less commonly microphthalmia) in association with a variable combination of the following: pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration, and variable cardiovascular defects (congenital heart defects and/or pulmonary artery atresia). Intellectual disability is noted in surviving patients. Other variable malformations affecting different organ systems, as well as facial dysmorphism, may be observed.
Id722458000
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van long
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map2470
SNOMED CT to ICD-10 extended map
TargetQ11.2
RuleTRUE
AdviceALWAYS Q11.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified