| syndroom van 'AT-hook DNA binding motif containing 1'-gerelateerde verstandelijke beperking, obstructieve slaapapneu en lichte dysmorfie (aandoening) | | syndroom van 'AT-hook DNA binding motif containing 1'-gerelateerde verstandelijke beperking, obstructieve slaapapneu en lichte dysmorfie | | syndroom van 'AT-hook DNA binding motif containing 1'-gerelateerde verstandelijke handicap, obstructieve slaapapneu en lichte dysmorfie
syndroom van AHDC1-gerelateerde mentale retardatie, obstructieve slaapapneu en lichte dysmorfie
syndroom van 'AT-hook DNA binding motif containing 1'-gerelateerde mentale retardatie, obstructieve slaapapneu en lichte dysmorfie
syndroom van Xia-Gibbs
| | AHDC1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome | | Xia Gibbs syndrome
AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
| | A rare syndromic intellectual disability characterized by hypotonia, developmental delay, absent or severely delayed speech development, obstructive sleep apnea, mild dysmorphic facial features and behavioral abnormalities. Epilepsy, ataxia and nystagmus have also been reported. Caused by heterozygous mutation in the AHDC1 gene on chromosome 1p36. |
| | Id | 774068004 | | 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 |
|
| SNOMED CT to Orphanet simple map | 412069 |
| 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 |
|
|
