Auditory system hereditary disorder
Autosomal recessive retinitis pigmentosa
Brachydactyly
Developmental hereditary disorder
Disorder of stature
Multiple malformation syndrome with facial-limb defects as major feature
Premature aging syndrome
Sensorineural hearing loss
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Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome (disorder)
Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome
Retinitis pigmentosa, deafness, premature aging, short stature, facial dysmorphism syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of developmental delay with mild intellectual disability, short stature, facial dysmorphism (such as sparse hair, high forehead, deep-set eyes, short and upslanting palpebral fissures, short nose, anteverted nares, wide nasal base with broad nasal tip and broad columella, long philtrum, thin upper lip, and low-set, posteriorly rotated ears) and variable onset of sensorineural hearing loss and retinitis pigmentosa. Additional features are other ocular anomalies, abnormalities of the fingers, hypothyroidism, and signs of premature aging. Brain imaging shows cerebellar atrophy and dysmyelination.
syndroom van retinitis pigmentosa, gehoorverlies, voortijdige veroudering, korte gestalte en faciale dysmorfie
Id1172605003
StatusPrimitive
Finding siteStructure of auditory system
Finding siteSkin structure
Has interpretationImpaired
InterpretsHearing
Associated morphologyAbnormally short growth
Finding siteDigit structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDystrophy
Finding siteRetinal structure
Has interpretationBelow reference range
InterpretsBody height measure
ICD-10 complex map reference set
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified