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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 Shaheen
syndroom van hypohidrose, hypoplasie van tandglazuur, keratosis palmoplantaris en mentale retardatie
syndroom van hypohidrose, hypoplasie van tandglazuur, keratosis palmoplantaris en verstandelijke handicap
Hypohidrosis, enamel hypoplasia, palmoplantar keratoderma, intellectual disability syndrome
Shaheen syndrome
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by 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.
Id773553003
StatusPrimitive
Associated morphologyhypoplasie
Finding sitestructuur van enamelum
Has interpretationverlaagd
Interpretszweten
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ82.8
TermOverige gespecificeerde congenitale misvormingen van huid
SNOMED CT to Orphanet simple map363523
SNOMED CT to ICD-10 extended map
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