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syndroom van alopecia, contractuur, dwerggroei en verstandelijke beperking (aandoening)
syndroom van alopecia, contractuur, dwerggroei en verstandelijke beperking
syndroom van alopecia, contractuur, dwerggroei en mentale retardatie
ACD-syndroom
syndroom van alopecia, contractuur, dwerggroei en verstandelijke handicap
Alopecia, contracture, dwarfism, intellectual disability syndrome
ACD (alopecia, contracture, dwarfism) syndrome
ACD (alopecia, contracture, dwarfism) mental retardation syndrome
A form of ectodermal dysplasia syndrome with characteristics of short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones, particularly elbows, carpals, metacarpals, and spine, intellectual disability and facial dysmorphism.
Id720979002
StatusPrimitive
Associated morphologymorfologische afwijking
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologydysplasie
Finding sitestructuur van ectoderm
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 map1005
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