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hereditaire hypotrichosis simplex (aandoening)
hereditaire hypotrichosis simplex
erfelijke hypotrichosis simplex
Hereditary hypotrichosis simplex
Hypotrichosis simplex
Disorder with characteristics of reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies. Prevalence is unknown but numerous large pedigrees with several affected members have been described. Both men and women are equally affected. Hair loss is diffuse and progressive and usually begins during early childhood. Body hair may also be sparse with variable involvement of the eyebrows, eyelashes, and pubic and axillary hair. There are no anomalies of the skin, nails or teeth. A scalp-limited form has also been reported with mutations in the corneodesmosin (CDSN) gene. Both autosomal dominant and recessive modes of transmission have been reported for this disorder.
Id723362004
StatusPrimitive
Associated morphologyverandering in groei
Finding sitestructuur van pilus
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetL65.8
TermOverige gespecificeerde vormen van haarverlies zonder littekenvorming
SNOMED CT to Orphanet simple map55654
SNOMED CT to ICD-10 extended map
TargetL65.8
RuleTRUE
AdviceALWAYS L65.8
CorrelationSNOMED CT source code to target map code correlation not specified
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