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syndroom van hypohidrose, hypoplasie van tandglazuur, keratosis palmoplantaris en verstandelijke beperking (aandoening)
syndroom van hypohidrose, hypoplasie van tandglazuur, keratosis palmoplantaris en verstandelijke beperking
syndroom van hypohidrose, hypoplasie van tandglazuur, keratosis palmoplantaris en verstandelijke handicap
syndroom van Shaheen
syndroom van hypohidrose, hypoplasie van tandglazuur, keratosis palmoplantaris en mentale retardatie
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
Shaheen syndrome
A rare genetic syndromic intellectual disability disorder with characteristics of severe intellectual disability with significant speech and language impairment, hypohidrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed. There is evidence the disease is caused by homozygous mutation in the COG6 gene on chromosome 13q14.
Id773553003
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van enamelum
referentieset met complexe 'mapping' naar ICD-10
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified