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syndroom van keratosis follicularis, dwerggroei en cerebrale atrofie (aandoening)
syndroom van keratosis follicularis, dwerggroei en cerebrale atrofie
keratosis follicularis-dwerggroei-cerebrale atrofie-syndroom
Keratosis follicularis, dwarfism, cerebral atrophy syndrome
Syndrome that is characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. It has been described in six males from one family (three boys and three maternal uncles). Generalized alopecia and microcephaly were also present.
Id723830005
StatusPrimitive
Associated morphologyatrophia
Finding sitestructuur van cerebrum
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologyacantholyse
Finding sitestructuur van huid
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationafwijkend
Interpretskeratinisatie
referentieset met complexe 'mapping' naar ICD-10
TargetQ87.1
RuleTRUE
AdviceALWAYS Q87.1 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified