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Bohring-Opitz-syndroom (aandoening)
Bohring-Opitz-syndroom
C-achtig syndroom
Opitz trigonocefalie-'like' syndroom
Opitz trigonocefalieachtig syndroom
syndroom van Bohring-Opitz
syndroom van Oberklaid-Danks
BOS
'C-like' syndroom
Oberklaid-Danks-syndroom
Bohring Opitz syndrome
C-like syndrome
Opitz trigonocephaly-like syndrome
Bohring syndrome
Syndrome with characteristics of intrauterine growth retardation, failure to thrive, facial dysmorphism, flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.
Id720565000
StatusPrimitive
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 map97297
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