Congenital malformation syndrome
Developmental hereditary disorder
Intellectual disability
X-linked recessive hereditary disease
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X-linked intellectual disability Miles Carpenter type (disorder)
X-linked intellectual disability Miles Carpenter type
X-linked intellectual disability Miles-Carpenter type
X-linked mental retardation Miles-Carpenter type has characteristics of severe intellectual deficit, microcephaly, exotropia and low digital arches. It has been described in four male members of one family. Joint hypermobility, distal muscle wasting, hypogonadism and rocker bottom feet were also reported. Low digital arches and exotropia were described in several female members of the family. Transmission is X-linked and the causative gene has been mapped to Xq13-q22.
X-gebonden verstandelijke beperking Miles-Carpenter-type
X-gebonden mentale retardatie Miles-Carpenter-type
X-gebonden verstandelijke handicap Miles-Carpenter-type
Id719012009
StatusPrimitive
Associated morphologyMorphologically abnormal 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