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syndroom van musculaire pseudohypertrofie en hypothyreoïdie (aandoening)
syndroom van musculaire pseudohypertrofie en hypothyreoïdie
Hoffman-syndroom
syndroom van pseudohypertrofie van spieren en hypothyroïdie
Hoffman syndrome
Kocher Debre Semelaigne syndrome
Muscular pseudohypertrophy and hypothyroidism syndrome
A rare disorder with characteristics of pseudohypertrophy of muscles due to longstanding hypothyroidism. Prevalence is unknown. The syndrome usually presents between 18 months and 10 years but has been reported at earlier ages including during the neonatal period. Patients present with clinical features of hypothyroidism, including decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice. Pseudohypertrophy involves the muscles of the extremities, limb girdle, trunk, hands and feet but is more prominent in the limbs, resulting in an athletic appearance. Hypothyroidism, or thyroid hormone deficiency, may be congenital and may be permanent or transient.
Id716338001
StatusPrimitive
Associated morphologypseudohypertrofie
Finding sitestructuur van skeletspier
referentieset met complexe 'mapping' naar ICD-10
TargetE03.1
RuleTRUE
AdviceALWAYS E03.1
CorrelationSNOMED CT source code to target map code correlation not specified
TargetG73.5
RuleTRUE
AdviceALWAYS G73.5 | THIS CODE MAY BE USED IN THE PRIMARY POSITION WHEN THE MANIFESTATION IS THE PRIMARY FOCUS OF CARE
CorrelationSNOMED CT source code to target map code correlation not specified