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cycline K-gerelateerd syndroom van neurobiologische ontwikkelingsstoornis, ernstige verstandelijke beperking en faciale dysmorfie (aandoening)
CCNK-gerelateerd syndroom van neurobiologische ontwikkelingsstoornis, ernstige verstandelijke beperking en faciale dysmorfie
CCNK-gerelateerd syndroom van neurologische ontwikkelingsstoornis, ernstige mentale retardatie en faciale dysmorfie
cycline K-gerelateerd syndroom van neurobiologische ontwikkelingsstoornis, ernstige verstandelijke beperking en faciale dysmorfie
CCNK-gerelateerd syndroom van neurologische ontwikkelingsstoornis, ernstige verstandelijke handicap en faciale dysmorfie
CCNK-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
Cyclin K-related neurodevelopmental disorder, severe intellectual disability, facial dysmorphism syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, severe intellectual disability, severe speech and communication problems and distinctive dysmorphic faces (high hairline, thin eyebrows, hypertelorism, dysmorphic ears, broad nasal bridge and tip, and narrow jaw). Height is not affected. Some patients may also present autistic behaviors.
Id1332384001
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
SNOMED CT to ICD-10 extended map
TargetG93.8
RuleTRUE
AdviceALWAYS G93.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified