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Microcephalus with albinism and digital anomaly syndrome (disorder)
Microcephalus with albinism and digital anomaly syndrome
Castro Gago Pombo Novo syndrome
Microcephaly with albinism and digital anomaly syndrome
A very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. It has been described in two siblings. Both brother and sister had psychomotor retardation and died in the course of a respiratory infection. The reported cases suggest that the condition is hereditary, and is transmitted as an autosomal recessive trait.
syndroom van microcefalie, albinisme en digitale anomalieën
syndroom van Castro Gago-Pombo-Novo
Id719377004
StatusPrimitive
Associated morphologyDecreased melanin pigmentation
Finding siteEye structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDecreased melanin pigmentation
Finding siteSkin structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyCongenital smallness
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ02
RuleTRUE
AdviceALWAYS Q02 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetE70.3
RuleTRUE
AdviceALWAYS E70.3
CorrelationSNOMED CT source code to target map code correlation not specified