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Craniofacial digital and genital anomalies syndrome (disorder)
Harrod syndrome
Craniofacial digital and genital anomalies syndrome
Cranio-facio-digito-genital syndrome
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive.
Id716089008
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAbnormally long and slender growth
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationImpaired
InterpretsIntellectual ability
Has interpretationImpaired
InterpretsAdaptation behavior
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.4
TermSyndroom van Marfan
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