Congenital alopecia
Congenital anomaly of skeletal bone
Developmental hereditary disorder
Hereditary disorder of endocrine system
Hereditary disorder of musculoskeletal system
Hereditary disorder of the integument
Hypogonadism
Intellectual disability
Multiple malformation syndrome with facial-limb defects as major feature
Reproductive system hereditary disorder
Skeletal dysplasia
X-linked recessive hereditary disease
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Intellectual disability, balding, patella luxation, acromicria syndrome (disorder)
Scholte syndrome
Scholte Begeer-van Essen syndrome
Intellectual disability, balding, patella luxation, acromicria syndrome
This syndrome has characteristics of severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.
syndroom van verstandelijke beperking, kaalheid, luxatie van patella en acromicrie
syndroom van verstandelijke handicap, kaalheid, luxatie van patella en acromicrie
syndroom van Scholte-Begeer-van Essen
syndroom van mentale retardatie, kaalheid, luxatie van patella en acromicrie
Id722002002
StatusPrimitive
Associated morphologyAbsence
Finding siteHair structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyMorphologically abnormal structure
Finding siteFace structure
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyDysplasia
Finding siteBone structure of extremity
OccurrenceCongenital
Pathological processPathological developmental process
Finding siteGonadal endocrine structure
OccurrenceCongenital
Pathological processPathological developmental process
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