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syndroom van skeletdysplasie, T-cel-immunodeficiƫntie en ontwikkelingsachterstand (aandoening)
syndroom van skeletdysplasie, T-cel-immunodeficiƫntie en ontwikkelingsachterstand
EXTL3-gerelateerd neuro-immuno-skeletale-dysplasiesyndroom
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
EXTL3 (exostosin like glycosyltransferase 3) related neuro-immuno-skeletal dysplasia syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 (exostosin like glycosyltransferase 3) deficiency
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of the association of developmental delay, variable intellectual disability, skeletal dysplasia and in many cases T-cell immunodeficiency and other immunologic abnormalities. Skeletal findings include short stature, anomalies of the long bones, hands, feet and pelvis, platyspondyly, cervical malformation and pectus excavatum. Dysmorphic facial features, such as coarse face, hypertelorism and broad nasal tip may be present. Additional reported manifestations are seizures, hyperreflexia, nystagmus and muscular hypotonia, along with multiple liver cysts.
Id1177175008
StatusPrimitive
Associated morphologydysplasie
Finding sitebotstructuur
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
Occurrencecongenitaal
Pathological processafwijkend immuunproces
Has interpretationgestoord
Interpretsintellectueel vermogen
Has interpretationgestoord
InterpretsAdaptation behavior
SNOMED CT to Orphanet simple map508533
SNOMED CT to ICD-10 extended map
TargetQ87.8
RuleTRUE
AdviceALWAYS Q87.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified