genetische verstandelijke beperking
hereditaire aandoening van zenuwstelsel
hereditaire ontwikkelingsstoornis
hydrocefalie
polymalformatief syndroom met defect van aangezicht als voornaamst kenmerk
X-gebonden hereditaire recessieve aandoening
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Fried-syndroom (aandoening)
Fried-syndroom
syndroom van Fried
Fried syndrome
Fried syndrome is a rare X-linked mental retardation (XLMR) syndrome characterized by psychomotor delay, intellectual deficit, hydrocephalus, and mild facial anomalies.
Id
718848000
Status
Primitive
Associated morphology
morfologische afwijking
Finding site
structuur van aangezicht
Occurrence
congenitaal
Pathological process
proces van pathologische ontwikkeling
Associated morphology
dilatatie
Finding site
structuur van liquorcirculatie in hersenen
Has interpretation
gestoord
Interprets
intellectueel vermogen
Has interpretation
gestoord
Interprets
Adaptation behavior
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map
85335
SNOMED CT to ICD-10 extended map
Target
Q87.0
Rule
TRUE
Advice
ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
Correlation
SNOMED CT source code to target map code correlation not specified