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syndroom van verstandelijke beperking, craniofaciale dysmorfie en cryptorchisme (aandoening)
syndroom van verstandelijke beperking, craniofaciale dysmorfie en cryptorchisme
syndroom van mentale retardatie, craniofaciale dysmorfie en cryptorchisme
syndroom van verstandelijke handicap, craniofaciale dysmorfie en cryptorchisme
Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome
A rare genetic syndromic intellectual disability syndrome with characteristics of mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or ocular defects, may be observed.
Id773581009
StatusPrimitive
referentieset met complexe 'mapping' naar ICD-10
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