Congenital complete absence of bilateral lower limbs
Congenital complete absence of bilateral upper limbs
Developmental hereditary disorder
Multiple system malformation syndrome
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Tetraamelia with multiple malformation syndrome (disorder)
Tetraamelia with multiple malformation syndrome
Tetra-amelia with multiple malformation syndrome
Zimmer phocomelia
An extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.
Id716249009
StatusPrimitive
Associated morphologyAgenesis
Finding siteEntire right upper limb
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAgenesis
Finding siteEntire left lower limb
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAgenesis
Finding siteEntire left upper limb
OccurrenceCongenital
Pathological processPathological developmental process
Associated morphologyAgenesis
Finding siteEntire right lower limb
OccurrenceCongenital
Pathological processPathological developmental process
SNOMED CT to Orphanet simple map
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.8
TermOverige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8
CorrelationSNOMED CT source code to target map code correlation not specified