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syndroom van doofheid en verstandelijke beperking Martin-Probst-type (aandoening)
syndroom van doofheid en verstandelijke beperking Martin-Probst-type
syndroom van doofheid en verstandelijke handicap type Martin-Probst
syndroom van doofheid en mentale retardatie type Martin-Probst
syndroom van Martin-Probst
Deafness and intellectual disability Martin Probst type syndrome
X-linked deafness and intellectual disability syndrome
Martin Probst syndrome
This syndrome has characteristics of severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopenia, microcephaly and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene is q1-21 region of the X chromosome.
Id721087008
StatusPrimitive
Interpretsgehoorfunctie
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