| 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
| | Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978. |
| | 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 | L81.8 | | Rule | TRUE | | Advice | ALWAYS L81.8 | 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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