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autosomaal recessieve cutis laxa type 1C (aandoening)
autosomaal recessieve cutis laxa type 1C
cutis laxa met ernstige pulmonale, gastro-intestinale en urinewegafwijkingen
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Urban Rifkin Davis syndrome
Autosomal recessive cutis laxa type 1C
ARCL1C - autosomal recessive cutis laxa type 1C
A rare genetic dermis elastic tissue disorder characterized by generalized cutis laxa associated with severe usually early-onset pulmonary emphysema, frequent and severe gastrointestinal and genitourinary involvement (such as bladder/intestine diverticula and/or tortuosity, gastrointestinal fragility, hydronephrosis), and mild cardiovascular involvement (typically limited to peripheral pulmonary artery stenosis only). Caused by homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13.
Id784349004
StatusPrimitive
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ82.8
TermOverige gespecificeerde congenitale misvormingen van huid
SNOMED CT to Orphanet simple map221145
SNOMED CT to ICD-10 extended map
TargetQ82.8
RuleTRUE
AdviceALWAYS Q82.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified