| syndroom van THOC6-gerelateerde ontwikkelingsachterstand, microcefalie en faciale dysmorfie (aandoening) | | syndroom van THOC6-gerelateerde ontwikkelingsachterstand, microcefalie en faciale dysmorfie | | BBIS
syndroom van Beaulieu-Boycott-Innes
| | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | | THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome
Beaulieu Boycott Innes syndrome
BBIS - Beaulieu Boycott Innes syndrome
| | A rare genetic syndromic intellectual disability disorder with characteristics of global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus) and corpus callosum dysplasia may be associated. The disease is caused by homozygous mutation in the THOC6 gene on chromosome 16p13. |
| | Id | 773554009 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.0 | | Term | Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan |
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| SNOMED CT to Orphanet simple map | 363444 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | 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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