| syndroom van kleine gestalte, craniofaciale afwijkingen en genitale hypoplasie (aandoening) | | syndroom van kleine gestalte, craniofaciale afwijkingen en genitale hypoplasie | | syndroom van Haspeslagh-Fryns-Muelenaere
| | Haspeslagh Fryns Muelenaere syndrome | | Short stature with craniofacial anomalies and genital hypoplasia syndrome
| | This syndrome has manifestation of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p. |
| | Id | 716090004 | | 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 | 2994 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | | Correlation | SNOMED CT source code to target map code correlation not specified |
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