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syndroom van anoftalmie en pulmonale hypoplasie (aandoening)
syndroom van anoftalmie en pulmonale hypoplasie
MCOPS9
syndromale microftalmie type 9
syndroom van Matthew-Wood
Matthew Wood syndrome
Anophthalmia with pulmonary hypoplasia syndrome
Syndromic microphthalmia type 9
A rare clinical entity including as main characteristics anophthalmia or severe microphthalmia, and pulmonary hypoplasia or aplasia. Only five cases have been reported so far, two of who were siblings. In the three nonfamilial cases, unilateral pulmonary agenesis and microphthalmia were associated with diaphragmatic hernia and pulmonary vessel agenesis. It has been suggested that two different entities can be distinguished: on one hand, the association of anophthalmia-pulmonary hypoplasia with/without anomalies of the face, heart, spleen and uterus, which may be due to a putative autosomal recessive gene with pleiotropic effects; on the other hand, a sporadic association including pulmonary hypoplasia, anophthalmia, unilateral diaphragmatic defect and agenesis of the pulmonary trunk, which may represent the expression of a developmental field defect. There is evidence that syndromic microphthalmia- is caused by homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.
Id722458000
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van long
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
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
TargetQ33.9
RuleTRUE
AdviceALWAYS Q33.9
CorrelationSNOMED CT source code to target map code correlation not specified