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microcefalie-osteodysplastische-primordiale-dwerggroei type 1 en 3 (aandoening)
microcefalie-osteodysplastische-primordiale-dwerggroei type 1 en 3
MOPD type 1 en 3
microcefalie-primordiale-dwerggroei type Crachami
syndroom van Taybi-Linder
Taybi-Linder-syndroom
microcefale osteodysplastische primordiale dwerggroei type Taybi-Linder
Microcephalic osteodysplastic primordial dwarfism types I and III
Microcephalic osteodysplastic primordial dwarfism Taybi Linder type
Taybi Linder syndrome
Primordial microcephalic dwarfism Crachami type
Disease with characteristics of intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome. Although the causative gene remains unknown, homozygosity mapping has allowed identification of a candidate gene region on chromosome 2q (2q14.2-q14.3). Histological studies suggest that MOPD types 1 and 3 result from a basic defect in cell proliferation and tissue differentiation. Transmitted as autosomal recessive trait.
Id725461009
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Associated morphologycongenitale kleinheid
Finding sitestructuur van hoofd
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
referentieset met complexe 'mapping' naar ICD-10
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