| syndroom van cutane mastocytose, dwerggroei en gehoorverlies (aandoening) | | syndroom van cutane mastocytose, dwerggroei en gehoorverlies | | syndroom van cutane mastocytose, kleine gestalte en gehoorverlies
| | Hennekam Beemer syndrome | | Cutaneous mastocytosis, short stature, hearing loss syndrome
| | Syndrome with the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. |
| | Id | 722453009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q82.2 | | Term | Mastocytose |
| Target | E34.3 | | Term | Kleine gestalte, niet elders geclassificeerd |
| Target | H90.2 | | Term | Gehoorverlies door geleidingsstoornis, niet gespecificeerd |
|
| SNOMED CT to Orphanet simple map | 2135 |
| SNOMED CT to ICD-10 extended map | | Target | Q82.2 | | Rule | TRUE | | Advice | ALWAYS Q82.2 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | E34.3 | | Rule | TRUE | | Advice | ALWAYS E34.3 | | Correlation | SNOMED CT source code to target map code correlation not specified |
| Target | H90.2 | | Rule | TRUE | | Advice | ALWAYS H90.2 | | Correlation | SNOMED CT source code to target map code correlation not specified |
|
|
