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pseudoprogeriasyndroom (aandoening)
pseudoprogeriasyndroom
syndroom van afwezige wenkbrauwen en wimpers en mentale retardatie
syndroom van Hal-Berg-Rudolph
Pseudoprogeria syndrome
Hall Berg Rudolph syndrome
Absent eyebrows and eyelashes with intellectual disability syndrome
A rare syndromic intellectual deficiency characterized by psychomotor delay, severe progressive spastic quadriplegia, microcephaly, and a Hallermann-Streiff-like phenotype including absence of eyebrows and eyelashes, glaucoma, and small, beaked nose. Structural central nervous system abnormalities (cervical spinal cyst, occipital cranium bifidum occulatum) were additional findings. There have been no further descriptions in the literature since 1974.
Id733086003
StatusPrimitive
Associated morphologyagenesie
Finding sitegehele wenkbrauw
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyagenesie
Finding sitegehele cilium
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyafwijkend klein
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
InterpretsAdaptation behavior
Has interpretationgestoord
Interpretsintellectueel vermogen
InterpretsMovement
Has interpretationafwezig
InterpretsMovement observable
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to Orphanet simple map2985
SNOMED CT to ICD-10 extended map
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