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'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.
Id1179408008
StatusPrimitive
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified