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2p21-microdeletiesyndroom zonder cystinurie (aandoening)
2p21-microdeletiesyndroom zonder cystinurie
monosomie 2p21 zonder cystinurie
2p21-deletiesyndroom zonder cystinurie
2p21 microdeletion syndrome without cystinuria
2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.
Id770754006
StatusPrimitive
Associated morphologypartiƫle monosomie
Finding sitechromosomenpaar 2
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
Has interpretationafwijkend laag
Interpretsspiertonus
DHD Diagnosis thesaurus reference set
SNOMED CT to Orphanet simple map369881
SNOMED CT to ICD-10 extended map
TargetQ93.5
RuleTRUE
AdviceALWAYS Q93.5 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified