| syndroom van ernstige voedingsproblemen, 'failure to thrive' en microcefalie door deficiëntie van 'ASXL transcriptional regulator 3' (aandoening) | | syndroom van ernstige voedingsproblemen, 'failure to thrive' en microcefalie door ASXL3-deficiëntie | | syndroom van Bainbridge-Roppers
syndroom van ernstige voedingsproblemen, 'failure to thrive' en microcefalie door deficiëntie van 'ASXL transcriptional regulator 3'
| | Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome | | Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome
Bainbridge Ropers syndrome
| | A rare genetic syndromic intellectual disability disorder with a variable phenotypic presentation. Typical characteristics are microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to profound intellectual disability, hypotonia and a distinctive facies that includes prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Caused by heterozygous mutation in the ASXL3 gene on chromosome 18q12. |
| | Id | 773400009 | | 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 | 352577 |
| 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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