| 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
| | 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. |
| | Id | 773553003 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q82.8 | | Term | Overige gespecificeerde congenitale misvormingen van huid |
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| SNOMED CT to Orphanet simple map | 363523 |
| SNOMED CT to ICD-10 extended map | | Target | Q82.8 | | Rule | TRUE | | Advice | ALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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