| 'chromodomain helicase DNA-binding protein 3'-gerelateerd syndroom van ontwikkelingsachterstand, spraakachterstand, verstandelijke beperking, afwijkend gezichtsvermogen en faciale dysmorfie (aandoening) | | CHD3-gerelateerd syndroom van ontwikkelingsachterstand, spraakachterstand, verstandelijke beperking, afwijkend gezichtsvermogen en faciale dysmorfie | | CHD3-gerelateerd syndroom van ontwikkelingsachterstand, spraakachterstand, mentale retardatie, afwijkend gezichtsvermogen en faciale dysmorfie
CHD3-gerelateerd syndroom van ontwikkelingsachterstand, spraakachterstand, verstandelijke handicap, afwijkend gezichtsvermogen en faciale dysmorfie
syndroom van Snijders Blok-Campeau
Snijders Blok-Campeau-syndroom
'chromodomain helicase DNA-binding protein 3'-gerelateerd syndroom van ontwikkelingsachterstand, spraakachterstand, verstandelijke beperking, afwijkend gezichtsvermogen en faciale dysmorfie
| | CHD3-related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome | | Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome
Snijders Blok-Campeau syndrome
| | A neurodevelopmental disorder with characteristics of global developmental delay, impaired intellectual development and delayed speech. Other variable features include macrocephaly, characteristic facial features, prominent forehead, hypertelorism, hypotonia and joint laxity. The syndrome is inherited in an autosomal dominant manner with evidence the disease is caused by heterozygous mutation in the CHD3 gene on chromosome 17p13. |
| | Id | 1179408008 | | Status | Primitive |
| 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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