Auditory system hereditary disorder
Autosomal recessive hereditary disorder
Congenital hypogonadotropic hypogonadism
Congenital microcephaly
Congenital sensorineural hearing loss
Developmental hereditary disorder
Disorder of ear
Disorder of sensory function
Hearing loss associated with syndrome
Hereditary disorder of endocrine system
Hereditary disorder of nervous system
Multiple malformation syndrome with facial defects as major feature
Reproductive system hereditary disorder
Short stature disorder
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Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural deafness, dysmorphism syndrome
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.
syndroom van hypogonadotroop hypogonadisme, ernstige microcefalie, perceptief gehoorverlies en dysmorfie
syndroom van hypogonadotroop hypogonadisme, ernstige microcefalie, sensorineurale doofheid en dysmorfie
Id773665006
StatusPrimitive
Finding siteGonadal endocrine structure
OccurrenceCongenital
Associated morphologyCongenital smallness
Finding siteHead structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteEar structure
OccurrenceCongenital
Finding siteStructure of distal part of pituitary
OccurrenceCongenital
Has interpretationImpaired
InterpretsHearing
Has interpretationBelow reference range
InterpretsHeight / growth measure
Has interpretationBelow reference range
InterpretsBirth head circumference
DHD Diagnosis thesaurus reference set
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