| 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
| | A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. |
| | 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 |
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| 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 |
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