| syndroom van grote gestalte, verstandelijke beperking en faciale dysmorfie (aandoening) | | syndroom van grote gestalte, verstandelijke beperking en faciale dysmorfie | | syndroom van grote lengte, verstandelijke handicap en congenitale afwijking van aangezicht
syndroom van grote lengte, mentale retardatie en faciale dysmorfie
Tatton-Brown-Rahman-syndroom
TBRS
DNA-methyltransferase-3-alfa-gerelateerd overgroeisyndroom
overgroeisyndroom van Tatton-Brown-Rahman
DNMT3A-gerelateerd overgroeisyndroom
syndroom van Tatton-Brown-Rahman
| | DNMT3A-related overgrowth syndrome | | DNA methyltransferase 3 alpha overgrowth syndrome
Tatton Brown Rahman overgrowth syndrome
Tatton Brown Rahman syndrome
Tall stature, intellectual disability, facial dysmorphism syndrome
| | A rare multiple congenital anomalies syndrome characterized by tall stature due to postnatal overgrowth, mild to moderate intellectual disability, joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). Overweight, hypotonia, behavioral and psychiatric problems are common. Other clinical features may involve seizures, cryptorchidism and cardiovascular diseases (including congenital heart disease and aortic root dilatation). |
| | Id | 768843007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.3 | | Term | Congenitale gestoorde-ontwikkelingssyndromen met vroege versterkte groei |
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| SNOMED CT to Orphanet simple map | 404443 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.3 | | Rule | TRUE | | Advice | ALWAYS Q87.3 | 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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