Congenital anomaly of skeletal bone
Congenital anomaly of skeletal bone
Congenital hypergonadotropic hypogonadism
Developmental hereditary disorder
Hereditary disorder of endocrine system
Hereditary disorder of endocrine system
Hereditary disorder of musculoskeletal system
Hereditary disorder of musculoskeletal system
Intellectual disability
Multiple system malformation syndrome
Multiple system malformation syndrome
Primary testicular failure
Primary testicular failure
Reproductive system hereditary disorder
Reproductive system hereditary disorder
X-linked hereditary disease
X-linked hereditary disease
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Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome
Sohval Soffer syndrome
This syndrome has characteristics of hypergonadotropic hypogonadism, intellectual deficit, and congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus. It has been described in two brothers. Testicular biopsy revealed germinal aplasia and complete seminiferous tubular fibrosis.
syndroom van hypergonadotroop hypogonadisme, verstandelijke beperking en skeletafwijking bij man
syndroom van Sohval-Soffer
syndroom van hypergonadotroop hypogonadisme, mentale retardatie en skeletafwijking bij man
syndroom van hypergonadotroop hypogonadisme, verstandelijke handicap en skeletafwijking bij man
Id722459008
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteBone structure
Finding siteBone structure
OccurrenceCongenital
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteTesticular endocrine structure
OccurrenceCongenital
Pathological processPathological developmental process
Has interpretationDecreased
InterpretsHormone production
DHD Diagnosis thesaurus reference set
ICD-10 complex map reference set
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified