|||||||
Noonan-syndroomachtige aandoening met 'loose anagen hair' (aandoening)
Noonan-syndroomachtige aandoening met 'loose anagen hair'
syndroom van Tosti
NS/LAH
syndroom van Noonan-achtige aandoening met 'loose anagen hair'
Noonan syndrome-like disorder with loose anagen hair
Tosti syndrome
A Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome, loose anagen hair, frequent congenital heart defects, distinctive skin features (darkly pigmented skin, keratosis pilaris, eczema or icthyosis), and short stature that is often associated with a growth hormone deficiency. Psychomotor delay with attention deficit/hyperactivity disorder (ADHD) is frequently observed.
Id723444009
StatusPrimitive
Associated morphologyverandering in groei
Finding sitestructuur van pilus
Associated morphologymorfologische afwijking
Finding sitestructuur van pilus
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map2701
SNOMED CT to ICD-10 extended map
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