Congenital anomaly of central nervous system
Congenital anomaly of digit
Congenital heart disease
Genetic disease
Multiple malformation syndrome with facial-limb defects as major feature
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Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome (disorder)
TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper or hypotonia, seizures, hearing loss, cortical blindness and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.
Id1208998007
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteStructure of central nervous system
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteHeart structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
ICD-10 complex map reference set
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