'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 rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by moderate to severe intellectual disability, developmental delay, macrocephaly, speech delay, and hypotonia. Dysmorphic facial features include a high, broad, and/or prominent forehead, laterally sparse eyebrows, widely spaced and deeply-set eyes, narrow palpebral fissures, low-set ears, full/prominent cheeks, midface hypoplasia, thin upper lip, and a pointed chin. Additional variable manifestations include joint laxity, abnormality of vision (including hypermetropia, strabismus, and cerebral visual impairment), genital abnormalities in males, and inguinal, umbilical, or hiatal hernia. |
| 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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