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X-linked intellectual disability Cilliers type (disorder)
X-linked intellectual disability Cilliers type
X-linked intellectual disability, microcephaly, testicular failure syndrome
X-linked intellectual deficit Cilliers type has characteristics of mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears). It has been described in four males from one family. The syndrome is mapped to the Xq25-q26 region of the X-chromosome. The syndrome is transmitted in an X-linked recessive manner.
X-gebonden verstandelijke beperking Cilliers-type
X-gebonden syndroom van verstandelijke handicap, microcefalie en testiculair falen
X-gebonden mentale retardatie Cilliers-type
Id719013004
StatusPrimitive
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