Arthropathy
Athetoid movement
Congenital anomaly of face
Congenital corneal opacity
Cutis laxa, autosomal recessive
Developmental delay
Disorder of proline AND/OR hydroxyproline metabolism
Hereditary disorder of musculoskeletal system
Hereditary disorder of the visual system
Hyperreflexia
Intellectual disability
Joint laxity
Musculoskeletal and connective tissue disorder
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Cutis laxa-corneal clouding-oligophrenia syndrome (disorder)
Cutis laxa-corneal clouding-oligophrenia syndrome
de Barsey syndrome
Cutis laxa, corneal clouding AND mental retardation
Progeroid syndrome of de Barsey
de Barsey-Moens-Dierckx syndrome
A syndrome with characteristics of facial dysmorphism, a progeroid appearance, large and late closing fontanelle, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.
syndroom van cutis laxa, corneatroebeling en verstandelijke beperking
De Barsy-syndroom
syndroom van cutis laxa, corneatroebeling en mentale retardatie
progeroïde syndroom type De Barsy
syndroom van cutis laxa, corneatroebeling en verstandelijke handicap
syndroom van De Barsy
Id59252009
StatusPrimitive
Associated morphologyOpacity
Finding siteCorneal structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteConnective tissue structure
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteJoint structure
Has interpretationAbnormal
InterpretsReflex
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified