| X-gebonden verstandelijke beperking Van Esch-type (aandoening) | | X-gebonden verstandelijke beperking Van Esch-type | | X-gebonden verstandelijke handicap Van Esch-type
X-gebonden mentale retardatie Van Esch-type
| | X-linked intellectual disability Van Esch type | | X-linked intellectual deficit Van Esch type has characteristics of mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism. It has been described in seven males from a family of Belgian origin. The syndrome is transmitted in an X-linked recessive manner and mapped to the Xp22.1-p21.3 region of the X-chromosome. |
| | Id | 718914002 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 163976 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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