| syndroom van congenitale hypomelanotische en hypermelanotische cutane maculae, groeiachterstand en verstandelijke beperking (aandoening) | | syndroom van congenitale hypomelanotische en hypermelanotische cutane maculae, groeiachterstand en verstandelijke beperking | | syndroom van congenitale hypomelanotische en hypermelanotische cutane maculae, groeiachterstand en mentale retardatie
| | Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome | | Westerhof Beemer Cormane syndrome
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome
| | A neurocutaneous syndrome with characteristics of congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit. |
| | Id | 733469003 | | 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 | 2435 |
| 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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