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syndroom van verstandelijke beperking, obesitas van romp, retinadystrofie en micropenis (aandoening)
syndroom van verstandelijke beperking, obesitas van romp, retinadystrofie en micropenis
MORM-syndroom
syndroom van verstandelijke handicap, obesitas van romp, retinadystrofie en micropenis
syndroom van mentale retardatie, obesitas van romp, retinadystrofie en micropenis
MORM syndrome
MORM (mental retardation, truncal obesity, retinal dystrophy, micropenis) syndrome
Mental retardation, truncal obesity, retinal dystrophy and micropenis syndrome
Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome
Syndrome with the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.
Id715628009
StatusPrimitive
Associated morphologydystrofie
Finding sitestructuur van retina
Associated morphologyhypoplasie
Finding sitestructuur van penis
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
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 map75858
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified