Developmental hereditary disorder
Intellectual disability
Multiple malformation syndrome with facial defects as major feature
X-linked recessive hereditary disease
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X-linked intellectual disability Nascimento type (disorder)
X-linked intellectual disability Nascimento type
X-linked intellectual disability, nail dystrophy, seizures syndrome
A rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures. Caused by mutation in the UBE2A gene on chromosome Xq24.
X-gebonden verstandelijke beperking Nascimento-type
X-gebonden syndroom van verstandelijke handicap, nageldystrofie en convulsies
X-gebonden mentale retardatie Nascimento-type
Id726732002
StatusPrimitive
Associated morphologyMorphologically abnormal structure
Finding siteFace 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