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Coffin-Lowry-syndroom (aandoening)
Coffin-Lowry-syndroom
syndroom van Coffin-Lowry
syndroom van Coffin-Lowry
Syndroom met als kenmerken schedel- en aangezichtsafwijkingen, botafwijkingen en verstandelijke achterstand.
Coffin-Lowry syndrome
CLS - Coffin-Lowry syndrome
A rare X-linked syndromic intellectual disability characterized by global development delay, postnatal growth retardation leading to short stature, facial dysmorphism, short hands with tapering fingers and progressive skeletal abnormalities including kyphoscoliosis and pectus carinatum/excavatum. Intellectual disability ranges from mild to severe.
Id15182000
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van hand
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
Global Patient Set
General Practice / Family Practice reference set
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map192
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified