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X-gebonden verstandelijke beperking Cabezas-type (aandoening)
X-gebonden verstandelijke beperking Cabezas-type
X-gebonden mentale retardatie Cabezas-type
X-gebonden verstandelijke handicap Cabezas-type
syndroom van Cabezas
X-linked intellectual disability Cabezas type
Cabezas syndrome
This syndrome has characteristics of intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localized to the q24-q25 region of the X chromosome. This syndrome has characteristics of intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.
Id719811001
StatusPrimitive
Associated morphologymorfologische afwijking
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified