Autosomal recessive hereditary disorder
Brachydactyly of hand
Congenital anomaly of anterior segment of eye
Congenital anomaly of finger
Congenital anomaly of ocular adnexa
Congenital anomaly of orbit
Congenital neurological disorder
Conjunctival telangiectasis
Developmental hereditary disorder
Epilepsy
Hereditary disorder of nervous system
Hereditary disorder of the visual system
Intellectual disability
Lesion of conjunctiva
Multiple malformation syndrome with facial-limb defects as major feature
Reduction deformity of finger
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Epilepsy telangiectasia syndrome (disorder)
Epilepsy telangiectasia syndrome
Syndrome with characteristics of intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum immunoglobulin antibody, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.
syndroom van epilepsie en teleangiëctasie
Id733032006
StatusPrimitive
Finding siteCerebrum
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyTelangiectasis
Finding siteConjunctival structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAbnormally short growth
Finding siteEntire little finger
OccurrenceCongenital
Pathological processPathological developmental process
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetG40.8
RuleTRUE
AdviceALWAYS G40.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH11.4
RuleTRUE
AdviceALWAYS H11.4
CorrelationSNOMED CT source code to target map code correlation not specified