| syndroom van extrasystolen, kleine gestalte, hyperpigmentatie en microcefalie (aandoening) | | syndroom van extrasystolen, kleine gestalte, hyperpigmentatie en microcefalie | | syndroom van Char-Douglas-Dungan
| | Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome | | Char Douglas Dungan syndrome
| | Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. |
| | Id | 771179007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| SNOMED CT to Orphanet simple map | 1964 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.1 | | Rule | TRUE | | Advice | ALWAYS Q87.1 | 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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